Reproductive Health
Identifying genetic causes of infertility facilitates informed decisions and family planning for your patients. With 10% of infertility cases being linked to genetic factors, their detection can provide vital answers. Genetic testing can be the key for a significant number of infertile couples trying to have children, as understanding the reason for infertility can often lead to success with a range of assisted reproductive techniques.
CentoScreen® Solo
CentoScreen® is our comprehensive screening panel that covers more than 300 common autosomal recessive and X-linked disorders. It provides the opportunity to make informed decisions and review the range of options available to guide pregnancy and family planning. Includes complete panel evaluation with CNV analysis* of 34 genes.
| No. of genes: | 330 |
|---|---|
| TAT: | 25 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
Sanger sequencing: CYP21A2
Repeat expansion analysis: FMR1
MLPA: SMN1
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| AAAS | 605378 | Achalasia-addisonianism-alacrimia syndrome | AR |
| ABCB11 | 603201 | Cholestasis, benign recurrent intrahepatic, 2 | AR |
| Cholestasis, progressive familial intrahepatic 2 | AR | ||
| ABCC6 | 603234 | Pseudoxanthoma elasticum, forme fruste | AD |
| Arterial calcification, generalized, of infancy, 2 | AR | ||
| Pseudoxanthoma elasticum | AR | ||
| ABCC8 | 600509 | Diabetes mellitus, transient neonatal 2 | - |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| Hyperinsulinemic hypoglycemia, familial, 1 | AD, AR | ||
| Hypoglycemia of infancy, leucine-sensitive | AD | ||
| Diabetes mellitus, permanent neonatal 3, with or without neurologic features | AD, AR | ||
| ABCD1 | 300371 | Adrenoleukodystrophy | XLR |
| Adrenomyeloneuropathy, adult | XLR | ||
| ACADM | 607008 | Acyl-CoA dehydrogenase, medium chain, deficiency of | AR |
| ACADS | 606885 | Acyl-CoA dehydrogenase, short-chain, deficiency of | AR |
| ACADSB | 600301 | 2-methylbutyrylglycinuria | AR |
| ACADVL | 609575 | VLCAD deficiency | AR |
| ACAT1 | 607809 | Alpha-methylacetoacetic aciduria | AR |
| ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency | AR |
| Mitchell syndrome | AD | ||
| ADA | 608958 | Adenosine deaminase deficiency, partial | AR, Somatic mosaicism |
| Severe combined immunodeficiency due to ADA deficiency | AR, Somatic mosaicism | ||
| ADAMTS2 | 604539 | Ehlers-Danlos syndrome, dermatosparaxis type | AR |
| ADAR | 146920 | Aicardi-Goutieres syndrome 6 | AR |
| Dyschromatosis symmetrica hereditaria | AD | ||
| ADGRG1 | 604110 | Polymicrogyria, bilateral perisylvian | - |
| Polymicrogyria, bilateral frontoparietal | AR | ||
| AGA | 613228 | Aspartylglucosaminuria | AR |
| AGL | 610860 | Glycogen storage disease IIIb | AR |
| Glycogen storage disease IIIa | AR | ||
| AGPS | 603051 | Rhizomelic chondrodysplasia punctata, type 3 | AR |
| AGXT | 604285 | Hyperoxaluria, primary, type 1 | AR |
| AIRE | 607358 | Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia | AD, AR |
| ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
| ALDH7A1 | 107323 | Epilepsy, pyridoxine-dependent | AR |
| ALDOB | 612724 | Fructose intolerance, hereditary | AR |
| ALG6 | 604566 | Congenital disorder of glycosylation, type Ic | AR |
| ALPL | 171760 | Hypophosphatasia, infantile | AR |
| Odontohypophosphatasia | AD, AR | ||
| Hypophosphatasia, childhood | AR | ||
| Hypophosphatasia, adult | AD, AR | ||
| AMT | 238310 | Glycine encephalopathy | AR |
| AP1S1 | 603531 | MEDNIK syndrome | AR |
| AP3B1 | 603401 | Hermansky-Pudlak syndrome 2 | AR |
| AR | 313700 | Androgen insensitivity | XLR |
| Androgen insensitivity, partial, with or without breast cancer | XLR | ||
| Prostate cancer, susceptibility to | AD, SM | ||
| Spinal and bulbar muscular atrophy of Kennedy | XLR | ||
| Hypospadias 1, X-linked | XLR | ||
| ARSA | 607574 | Metachromatic leukodystrophy | AR |
| ARSB | 611542 | Mucopolysaccharidosis type VI (Maroteaux-Lamy) | AR |
| ASL | 608310 | Argininosuccinic aciduria | AR |
| ASNS | 108370 | Asparagine synthetase deficiency | AR |
| ASPA | 608034 | Canavan disease | AR |
| ASS1 | 603470 | Citrullinemia | AR |
| ATM | 607585 | Breast cancer, susceptibility to | AD, SM |
| Ataxia-telangiectasia | AR | ||
| ATP13A2 | 610513 | Spastic paraplegia 78, autosomal recessive | AR |
| Kufor-Rakeb syndrome | AR | ||
| ATP6V1B1 | 192132 | Distal renal tubular acidosis 2 with progressive sensorineural hearing loss | AR |
| ATP7B | 606882 | Wilson disease | AR |
| BBS1 | 209901 | Bardet-Biedl syndrome 1 | AR, DR |
| BBS10 | 610148 | Bardet-Biedl syndrome 10 | AR |
| BBS12 | 610683 | Bardet-Biedl syndrome 12 | AR |
| BBS2 | 606151 | Bardet-Biedl syndrome 2 | AR |
| Retinitis pigmentosa 74 | AR | ||
| BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
| BBS7 | 607590 | Bardet-Biedl syndrome 7 | AR |
| BBS9 | 607968 | Bardet-Biedl syndrome 9 | AR |
| BCKDHA | 608348 | Maple syrup urine disease, type Ia | AR |
| BCKDHB | 248611 | Maple syrup urine disease, type Ib | AR |
| BCS1L | 603647 | GRACILE syndrome | AR |
| Bjornstad syndrome | AR | ||
| Mitochondrial complex III deficiency, nuclear type 1 | AR | ||
| BLM | 604610 | Bloom syndrome | AR |
| BSND | 606412 | Bartter syndrome, type 4a | AR |
| Sensorineural deafness with mild renal dysfunction | AR | ||
| BTD | 609019 | Biotinidase deficiency | AR |
| CANT1 | 613165 | Desbuquois dysplasia 1 | AR |
| Epiphyseal dysplasia, multiple, 7 | AR | ||
| CAPN3 | 114240 | Muscular dystrophy, limb-girdle, autosomal dominant 4 | AD |
| Muscular dystrophy, limb-girdle, autosomal recessive 1 | AR | ||
| CBS | 613381 | Thrombosis, hyperhomocysteinemic | AR |
| Homocystinuria, B6-responsive and nonresponsive types | AR | ||
| CDH23 | 605516 | Deafness, autosomal recessive 12 | AR |
| Usher syndrome, type 1D | AR, DR | ||
| Usher syndrome, type 1D/F digenic | AR, DR | ||
| Pituitary adenoma 5, multiple types | AD | ||
| CEP290 | 610142 | Leber congenital amaurosis 10 | - |
| Meckel syndrome 4 | AR | ||
| ?Bardet-Biedl syndrome 14 | AR | ||
| Senior-Loken syndrome 6 | AR | ||
| Joubert syndrome 5 | AR | ||
| CERKL | 608381 | Retinitis pigmentosa 26 | AR |
| CFTR | 602421 | Congenital bilateral absence of vas deferens | AR |
| Pancreatitis, hereditary | AD | ||
| Bronchiectasis with or without elevated sweat chloride 1, modifier of | AD | ||
| Cystic fibrosis | AR | ||
| CHAT | 118490 | Myasthenic syndrome, congenital, 6, presynaptic | AR |
| CHM | 300390 | Choroideremia | XL |
| CHRNE | 100725 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | AR |
| Myasthenic syndrome, congenital, 4A, slow-channel | AD, AR | ||
| Myasthenic syndrome, congenital, 4B, fast-channel | AR | ||
| CLN3 | 607042 | Ceroid lipofuscinosis, neuronal, 3 | AR |
| CLN5 | - | Ceroid lipofuscinosis, neuronal, 5 | AR |
| CLN6 | 606725 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset | AR |
| Ceroid lipofuscinosis, neuronal, 6 | AR | ||
| CLN8 | 607837 | Ceroid lipofuscinosis, neuronal, 8 | AR |
| Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant | AR | ||
| CLRN1 | 606397 | Retinitis pigmentosa 61 | - |
| Usher syndrome, type 3A | AR | ||
| CNGA3 | 600053 | Achromatopsia 2 | AR |
| CNGB3 | 605080 | Achromatopsia 3 | AR |
| COL4A3 | 120070 | Alport syndrome 3, autosomal dominant | AD |
| Hematuria, benign familial | AD | ||
| Alport syndrome 2, autosomal recessive | AR | ||
| COL4A4 | 120131 | Alport syndrome 2, autosomal recessive | AR |
| Hematuria, familial benign | AD | ||
| COL4A5 | 303630 | Alport syndrome 1, X-linked | XLD |
| COL7A1 | 120120 | Epidermolysis bullosa dystrophica, AR | AR |
| Epidermolysis bullosa dystrophica, AD | AD | ||
| Epidermolysis bullosa pruriginosa | AD, AR | ||
| Transient bullous of the newborn | AD, AR | ||
| Epidermolysis bullosa, pretibial | AD, AR | ||
| Toenail dystrophy, isolated | AD | ||
| EBD, Bart type | AD | ||
| EBD inversa | AR | ||
| COLQ | 603033 | Myasthenic syndrome, congenital, 5 | AR |
| CPT1A | 600528 | CPT deficiency, hepatic, type IA | AR |
| CPT2 | 600650 | CPT II deficiency, myopathic, stress-induced | AD, AR |
| CPT II deficiency, infantile | AR | ||
| Encephalopathy, acute, infection-induced, 4, susceptibility to | AD, AR | ||
| CPT II deficiency, lethal neonatal | AR | ||
| CRB1 | 604210 | Leber congenital amaurosis 8 | AR |
| Retinitis pigmentosa-12 | AR | ||
| Pigmented paravenous chorioretinal atrophy | AD | ||
| CRPPA | 614631 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | AR |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | AR | ||
| CTNS | 606272 | Cystinosis, late-onset juvenile or adolescent nephropathic | AR |
| Cystinosis, ocular nonnephropathic | AR | ||
| Cystinosis, nephropathic | AR | ||
| Cystinosis, atypical nephropathic | AR | ||
| CTSD | 116840 | Ceroid lipofuscinosis, neuronal, 10 | AR |
| CTSF | 603539 | Ceroid lipofuscinosis, neuronal, 13, Kufs type | AR |
| CTSK | 601105 | Pycnodysostosis | AR |
| CYP11B1 | 610613 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | AR |
| Aldosteronism, glucocorticoid-remediable | AD | ||
| CYP11B2 | 124080 | Hypoaldosteronism, congenital, due to CMO II deficiency | AR |
| Hypoaldosteronism, congenital, due to CMO I deficiency | AR | ||
| CYP17A1 | 609300 | 17, 20-lyase deficiency, isolated | AR |
| 17-alpha-hydroxylase/17, 20-lyase deficiency | AR | ||
| CYP19A1 | 107910 | Aromatase excess syndrome | AD |
| Aromatase deficiency | - | ||
| CYP1B1 | 601771 | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset | AR |
| Anterior segment dysgenesis 6, multiple subtypes | AR | ||
| CYP21A2 | 613815 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | AR |
| Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency | AR | ||
| CYP27A1 | 606530 | Cerebrotendinous xanthomatosis | AR |
| CYP27B1 | 609506 | Vitamin D-dependent rickets, type I | AR |
| DBT | 248610 | Maple syrup urine disease, type II | AR |
| DCLRE1C | 605988 | Omenn syndrome | AR |
| Severe combined immunodeficiency, Athabascan type | AR | ||
| DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
| DHDDS | 608172 | Developmental delay and seizures with or without movement abnormalities | AD |
| Retinitis pigmentosa 59 | AR | ||
| ?Congenital disorder of glycosylation, type 1bb | AR | ||
| DKC1 | 300126 | Dyskeratosis congenita, X-linked | XLR |
| DLD | 238331 | Dihydrolipoamide dehydrogenase deficiency | AR |
| DMD | 300377 | Cardiomyopathy, dilated, 3B | XL |
| Duchenne muscular dystrophy | XLR | ||
| Becker muscular dystrophy | XLR | ||
| DNAH5 | 603335 | Ciliary dyskinesia, primary, 3, with or without situs inversus | AR |
| DNAI1 | 604366 | Ciliary dyskinesia, primary, 1, with or without situs inversus | AR |
| DNAI2 | 605483 | Ciliary dyskinesia, primary, 9, with or without situs inversus | AR |
| DNAJC5 | 611203 | Ceroid lipofuscinosis, neuronal, 4, Parry type | AD |
| DOK7 | 610285 | Fetal akinesia deformation sequence 3 | AR |
| Myasthenic syndrome, congenital, 10 | AR | ||
| DPYD | 612779 | 5-fluorouracil toxicity | AR |
| Dihydropyrimidine dehydrogenase deficiency | AR | ||
| DYSF | 603009 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | AR |
| Myopathy, distal, with anterior tibial onset | AR | ||
| Miyoshi muscular dystrophy 1 | AR | ||
| EDA | 300451 | Tooth agenesis, selective, X-linked 1 | XLD |
| Ectodermal dysplasia 1, hypohidrotic, X-linked | XLR | ||
| EDAR | 604095 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | AR |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | AD | ||
| [Hair morphology 1, hair thickness] | - | ||
| ELP1 | 603722 | Dysautonomia, familial | AR |
| Medulloblastoma | AD, AR, SM | ||
| EMD | 300384 | Emery-Dreifuss muscular dystrophy 1, X-linked | XLR |
| ERCC2 | 126340 | ?Cerebrooculofacioskeletal syndrome 2 | AR |
| Xeroderma pigmentosum, group D | AR | ||
| Trichothiodystrophy 1, photosensitive | AR | ||
| ETFA | - | Glutaric acidemia IIA | AR |
| ETFB | 130410 | Glutaric acidemia IIB | AR |
| ETFDH | 231675 | Glutaric acidemia IIC | AR |
| ETHE1 | 608451 | Ethylmalonic encephalopathy | AR |
| EXOSC3 | 606489 | Pontocerebellar hypoplasia, type 1B | AR |
| EYS | 612424 | Retinitis pigmentosa 25 | AR |
| F11 | 264900 | Factor XI deficiency, autosomal dominant | - |
| Factor XI deficiency, autosomal recessive | - | ||
| F8 | 300841 | Thrombophilia 13, X-linked, due to factor VIII defect | - |
| Hemophilia A | XLR | ||
| F9 | 300746 | Warfarin sensitivity | XL |
| Thrombophilia, X-linked, due to factor IX defect | XLR | ||
| Hemophilia B | XLR | ||
| Deep venous thrombosis, protection against | XLR | ||
| FAH | 613871 | Tyrosinemia, type I | AR |
| FAM161A | 613596 | Retinitis pigmentosa 28 | - |
| FANCA | 607139 | Fanconi anemia, complementation group A | AR |
| FANCC | 613899 | Fanconi anemia, complementation group C | AR |
| FANCG | 602956 | Fanconi anemia, complementation group G | AR |
| FH | 136850 | Fumarase deficiency | AR |
| Leiomyomatosis and renal cell cancer | AD | ||
| FKRP | 606596 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 | AR | ||
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | AR | ||
| FKTN | 607440 | Cardiomyopathy, dilated, 1X | AR |
| Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 | AR | ||
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | AR | ||
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | AR | ||
| FMR1 | 309550 | Premature ovarian failure 1 | XL |
| Fragile X syndrome | XLD | ||
| Fragile X tremor/ataxia syndrome | XLD | ||
| G6PC1 | 613742 | Glycogen storage disease Ia | AR |
| G6PD | 305900 | Resistance to malaria due to G6PD deficiency | - |
| Hemolytic anemia, G6PD deficient (favism) | XLD | ||
| GAA | 606800 | Glycogen storage disease II | AR |
| GALC | 606890 | Krabbe disease | AR |
| GALE | 606953 | Galactose epimerase deficiency | AR |
| GALK1 | 604313 | Galactokinase deficiency with cataracts | AR |
| GALNT3 | 601756 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | AR |
| GALT | 606999 | Galactosemia | AR |
| GAMT | 601240 | Cerebral creatine deficiency syndrome 2 | AR |
| GBA | 606463 | Lewy body dementia, susceptibility to | AD |
| Gaucher disease, type IIIC | AR | ||
| Parkinson disease, late-onset, susceptibility to | AD, MF | ||
| Gaucher disease, type II | AR | ||
| Gaucher disease, type III | AR | ||
| Gaucher disease, perinatal lethal | AR | ||
| Gaucher disease, type I | AR | ||
| GBE1 | 607839 | Glycogen storage disease IV | AR |
| Polyglucosan body disease, adult form | AR | ||
| GCDH | 608801 | Glutaricaciduria, type I | AR |
| GCSH | 238330 | ?Glycine encephalopathy | AR |
| GDF5 | 601146 | Du Pan syndrome | AR |
| Brachydactyly, type C | AD | ||
| Osteoarthritis-5 | - | ||
| Multiple synostoses syndrome 2 | AD | ||
| Chondrodysplasia, Grebe type | AR | ||
| Brachydactyly, type A1, C | AD, AR | ||
| ?Acromesomelic dysplasia, Hunter-Thompson type | AR | ||
| Brachydactyly, type A2 | AD | ||
| Symphalangism, proximal, 1B | AD | ||
| GFPT1 | 138292 | Myasthenia, congenital, 12, with tubular aggregates | AR |
| GJB1 | 304040 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | XLD |
| GJB2 | 121011 | Keratoderma, palmoplantar, with deafness | AD |
| Keratitis-ichthyosis-deafness syndrome | AD | ||
| Deafness, autosomal dominant 3A | AD | ||
| Hystrix-like ichthyosis with deafness | AD | ||
| Bart-Pumphrey syndrome | AD | ||
| Vohwinkel syndrome | AD | ||
| Deafness, autosomal recessive 1A | AR, DD | ||
| GJB6 | 604418 | Deafness, autosomal recessive 1B | AR |
| Deafness, digenic GJB2/GJB6 | AR, DD | ||
| Ectodermal dysplasia 2, Clouston type | AD | ||
| Deafness, autosomal dominant 3B | AD | ||
| GLA | 300644 | Fabry disease | XL |
| Fabry disease, cardiac variant | XL | ||
| GLB1 | 611458 | GM1-gangliosidosis, type II | AR |
| GM1-gangliosidosis, type I | AR | ||
| Mucopolysaccharidosis type IVB (Morquio) | AR | ||
| GM1-gangliosidosis, type III | AR | ||
| GLDC | 238300 | Glycine encephalopathy | AR |
| GNE | 603824 | Nonaka myopathy | AR |
| Sialuria | AD | ||
| GNPAT | 602744 | Rhizomelic chondrodysplasia punctata, type 2 | AR |
| GNPTAB | 607840 | Mucolipidosis III alpha/beta | AR |
| Mucolipidosis II alpha/beta | AR | ||
| GNPTG | 607838 | Mucolipidosis III gamma | AR |
| GNS | 607664 | Mucopolysaccharidosis type IIID | AR |
| GORAB | 607983 | Geroderma osteodysplasticum | AR |
| GRHPR | 604296 | Hyperoxaluria, primary, type II | AR |
| GRN | 138945 | Ceroid lipofuscinosis, neuronal, 11 | AR |
| Frontotemporal lobar degeneration with ubiquitin-positive inclusions | AD | ||
| Aphasia, primary progressive | AD | ||
| GUCY2D | 600179 | Cone-rod dystrophy 6 | AD, AR |
| Leber congenital amaurosis 1 | AR | ||
| Night blindness, congenital stationary, type 1I | AR | ||
| ?Choroidal dystrophy, central areolar 1 | AD | ||
| HADH | 601609 | 3-hydroxyacyl-CoA dehydrogenase deficiency | AR |
| Hyperinsulinemic hypoglycemia, familial, 4 | AR | ||
| HADHA | 600890 | HELLP syndrome, maternal, of pregnancy | AR |
| LCHAD deficiency | AR | ||
| Fatty liver, acute, of pregnancy | AR | ||
| Mitochondrial trifunctional protein deficiency | AR | ||
| HADHB | 143450 | Trifunctional protein deficiency | AR |
| HAX1 | 605998 | Neutropenia, severe congenital 3, autosomal recessive | AR |
| HBA1 | 141800 | Methemoglobinemia, alpha type | AD |
| Heinz body anemias, alpha- | AD | ||
| Erythrocytosis 7 | AD | ||
| Thalassemias, alpha- | - | ||
| Hemoglobin H disease, nondeletional | - | ||
| HBA2 | 141850 | Thalassemia, alpha- | - |
| Erythrocytosis 7 | AD | ||
| Heinz body anemia | AD | ||
| Hemoglobin H disease, deletional and nondeletional | - | ||
| HBB | 141900 | Erythrocytosis 6 | AD |
| Methemoglobinemia, beta type | AD | ||
| Delta-beta thalassemia | AD | ||
| Thalassemia-beta, dominant inclusion-body | AD | ||
| Sickle cell anemia | AR | ||
| Hereditary persistence of fetal hemoglobin | AD | ||
| Malaria, resistance to | - | ||
| Thalassemia, beta | - | ||
| Heinz body anemia | AD | ||
| HEPACAM | 611642 | Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation | AD |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A | AR | ||
| HEXA | 606869 | Tay-Sachs disease | AR |
| [Hex A pseudodeficiency] | AR | ||
| GM2-gangliosidosis, several forms | AR | ||
| HEXB | 606873 | Sandhoff disease, infantile, juvenile, and adult forms | AR |
| HGD | 607474 | Alkaptonuria | AR |
| HGSNAT | 610453 | Mucopolysaccharidosis type IIIC (Sanfilippo C) | AR |
| Retinitis pigmentosa 73 | AR | ||
| HJV | 608374 | Hemochromatosis, type 2A | AR |
| HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
| HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
| HOGA1 | 613597 | Hyperoxaluria, primary, type III | AR |
| HPRT1 | 308000 | Hyperuricemia, HRPT-related | XLR |
| Lesch-Nyhan syndrome | XLR | ||
| HPS1 | 604982 | Hermansky-Pudlak syndrome 1 | AR |
| HPS3 | 606118 | Hermansky-Pudlak syndrome 3 | AR |
| HPS4 | 606682 | Hermansky-Pudlak syndrome 4 | AR |
| HPS5 | 607521 | Hermansky-Pudlak syndrome 5 | AR |
| HPS6 | 607522 | Hermansky-Pudlak syndrome 6 | AR |
| HSD17B3 | 605573 | Pseudohermaphroditism, male, with gynecomastia | AR |
| HSD17B4 | 601860 | Perrault syndrome 1 | AR |
| D-bifunctional protein deficiency | AR | ||
| HSD3B2 | 613890 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR |
| IDS | 300823 | Mucopolysaccharidosis II | XLR |
| IDUA | 252800 | Mucopolysaccharidosis Is | AR |
| Mucopolysaccharidosis Ih/s | AR | ||
| Mucopolysaccharidosis Ih | AR | ||
| IL2RG | 308380 | Severe combined immunodeficiency, X-linked | XLR |
| Combined immunodeficiency, X-linked, moderate | XLR | ||
| IVD | 607036 | Isovaleric acidemia | AR |
| KCNJ11 | 600937 | Maturity-onset diabetes of the young, type 13 | AD |
| Diabetes mellitus, transient neonatal 3 | AD | ||
| Hyperinsulinemic hypoglycemia, familial, 2 | AD, AR | ||
| Diabetes, permanent neonatal 2, with or without neurologic features | AD | ||
| Diabetes mellitus, type 2, susceptibility to | AD | ||
| KCTD7 | 611725 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | AR |
| L1CAM | 308840 | Hydrocephalus with congenital idiopathic intestinal pseudoobstruction | XLR |
| CRASH syndrome | XLR | ||
| Corpus callosum, partial agenesis of | XLR | ||
| Hydrocephalus with Hirschsprung disease | XLR | ||
| MASA syndrome | XLR | ||
| Hydrocephalus due to aqueductal stenosis | XLR | ||
| LAMA3 | 600805 | Laryngoonychocutaneous syndrome | AR |
| Epidermolysis bullosa, junctional, Herlitz type | AR | ||
| Epidermolysis bullosa, junctional 2B, severe | - | ||
| Epidermolysis bullosa, generalized atrophic benign | AR | ||
| Epidermolysis bullosa, junctional 2A, intermediate | - | ||
| LAMB3 | 150310 | Epidermolysis bullosa, junctional, non-Herlitz type | AR |
| Amelogenesis imperfecta, type IA | AD | ||
| Epidermolysis bullosa, junctional, Herlitz type | AR | ||
| LAMC2 | 150292 | Epidermolysis bullosa, junctional, non-Herlitz type | AR |
| Epidermolysis bullosa, junctional, Herlitz type | AR | ||
| Epidermolysis bullosa, junctional 3B, severe | - | ||
| Epidermolysis bullosa, junctional 3A, intermediate | - | ||
| LARGE1 | 603590 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 | AR | ||
| LCA5 | 611408 | Leber congenital amaurosis 5 | AR |
| LHCGR | 152790 | Leydig cell hypoplasia with pseudohermaphroditism | AR |
| Leydig cell adenoma, somatic, with precocious puberty | - | ||
| Precocious puberty, male | AD | ||
| Leydig cell hypoplasia with hypergonadotropic hypogonadism | AR | ||
| Luteinizing hormone resistance, female | AR | ||
| LIFR | 151443 | Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome | AR |
| LIPA | 613497 | Wolman disease | AR |
| Cholesteryl ester storage disease | AR | ||
| LIPH | 607365 | Woolly hair, autosomal recessive 2 with or without hypotrichosis | AR |
| Hypotrichosis 7 | AR | ||
| LOXHD1 | 613072 | Deafness, autosomal recessive 77 | AR |
| LPL | 609708 | [High density lipoprotein cholesterol level QTL 11] | AR |
| Combined hyperlipidemia, familial | AD | ||
| Lipoprotein lipase deficiency | AR | ||
| LRPPRC | 607544 | Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) | AR |
| LYST | 606897 | Chediak-Higashi syndrome | AR |
| MAN2B1 | 609458 | Mannosidosis, alpha-, types I and II | AR |
| MCCC1 | 609010 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
| MCCC2 | 609014 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | AR |
| MCOLN1 | 605248 | Mucolipidosis IV | AR |
| MED17 | 603810 | Microcephaly, postnatal progressive, with seizures and brain atrophy | AR |
| MEFV | - | Neutrophilic dermatosis, acute febrile | AD |
| Familial Mediterranean fever, AR | AR | ||
| Familial Mediterranean fever, AD | AD | ||
| MFSD8 | 611124 | Ceroid lipofuscinosis, neuronal, 7 | AR |
| Macular dystrophy with central cone involvement | AR | ||
| MKKS | 604896 | McKusick-Kaufman syndrome | AR |
| Bardet-Biedl syndrome 6 | AR | ||
| MKS1 | 609883 | Bardet-Biedl syndrome 13 | AR |
| Joubert syndrome 28 | AR | ||
| Meckel syndrome 1 | AR | ||
| MLC1 | 605908 | Megalencephalic leukoencephalopathy with subcortical cysts | AR |
| MMAA | 607481 | Methylmalonic aciduria, vitamin B12-responsive | AR |
| MMAB | 607568 | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type | AR |
| MMADHC | 611935 | Methylmalonic aciduria and homocystinuria, cblD type | AR |
| Methylmalonic aciduria, cblD type, variant 2 | AR | ||
| Homocystinuria, cblD type, variant 1 | AR | ||
| MMUT | 609058 | Methylmalonic aciduria, mut(0) type | AR |
| MPI | 154550 | Congenital disorder of glycosylation, type Ib | AR |
| MPL | 159530 | Myelofibrosis with myeloid metaplasia, somatic | - |
| Thrombocytopenia, congenital amegakaryocytic | AR | ||
| Thrombocythemia 2 | AD, SM | ||
| MPV17 | 137960 | Charcot-Marie-Tooth disease, axonal, type 2EE | AR |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | AR | ||
| MRE11 | 600814 | Ataxia-telangiectasia-like disorder 1 | AR |
| MTHFR | 607093 | Neural tube defects, susceptibility to | AR |
| Homocystinuria due to MTHFR deficiency | AR | ||
| Schizophrenia, susceptibility to | AD | ||
| Thromboembolism, susceptibility to | AD | ||
| MTM1 | 300415 | Myotubular myopathy, X-linked | XLR |
| MTTP | 157147 | Metabolic syndrome, protection against | AD |
| Abetalipoproteinemia | AR | ||
| MYO7A | 276903 | Deafness, autosomal dominant 11 | AD |
| Usher syndrome, type 1B | AR | ||
| Deafness, autosomal recessive 2 | AR | ||
| NAGLU | 609701 | ?Charcot-Marie-Tooth disease, axonal, type 2V | AD |
| Mucopolysaccharidosis type IIIB (Sanfilippo B) | AR | ||
| NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
| NBN | 602667 | Aplastic anemia | - |
| Leukemia, acute lymphoblastic | - | ||
| Nijmegen breakage syndrome | AR | ||
| NDUFAF6 | 612392 | Mitochondrial complex I deficiency, nuclear type 17 | AR |
| Fanconi renotubular syndrome 5 | AR | ||
| NEB | 161650 | Nemaline myopathy 2, autosomal recessive | AR |
| Arthrogryposis multiplex congenita 6 | AR | ||
| NPC1 | 607623 | Niemann-Pick disease, type C1 | AR |
| Niemann-Pick disease, type D | AR | ||
| NPC2 | 601015 | Niemann-pick disease, type C2 | AR |
| NPHS1 | 602716 | Nephrotic syndrome, type 1 | AR |
| NPHS2 | 604766 | Nephrotic syndrome, type 2 | AR |
| NTRK1 | 191315 | Insensitivity to pain, congenital, with anhidrosis | AR |
| OPA3 | 606580 | 3-methylglutaconic aciduria, type III | AR |
| Optic atrophy 3 with cataract | AD | ||
| OTC | 300461 | Ornithine transcarbamylase deficiency | XL |
| PAH | 612349 | Phenylketonuria | AR |
| [Hyperphenylalaninemia, non-PKU mild] | AR | ||
| PCCA | 232000 | Propionicacidemia | AR |
| PCCB | 232050 | Propionicacidemia | AR |
| PCDH15 | 605514 | Usher syndrome, type 1D/F digenic | AR, DR |
| Deafness, autosomal recessive 23 | AR | ||
| Usher syndrome, type 1F | AR | ||
| PDHA1 | - | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
| PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | AR |
| PEPD | 613230 | Prolidase deficiency | AR |
| PET100 | 614770 | Mitochondrial complex IV deficiency, nuclear type 12 | AR |
| PEX1 | 602136 | Peroxisome biogenesis disorder 1A (Zellweger) | AR |
| Peroxisome biogenesis disorder 1B (NALD/IRD) | AR | ||
| Heimler syndrome 1 | AR | ||
| PEX10 | 602859 | Peroxisome biogenesis disorder 6A (Zellweger) | AR |
| Peroxisome biogenesis disorder 6B | AR | ||
| PEX12 | 601758 | Peroxisome biogenesis disorder 3B | AR |
| Peroxisome biogenesis disorder 3A (Zellweger) | AR | ||
| PEX2 | 170993 | Peroxisome biogenesis disorder 5B | AR |
| Peroxisome biogenesis disorder 5A (Zellweger) | AR | ||
| PEX26 | 608666 | Peroxisome biogenesis disorder 7A (Zellweger) | AR |
| Peroxisome biogenesis disorder 7B | AR | ||
| PEX6 | - | Peroxisome biogenesis disorder 4B | AD, AR |
| Peroxisome biogenesis disorder 4A (Zellweger) | AR | ||
| Heimler syndrome 2 | AR | ||
| PEX7 | 601757 | Peroxisome biogenesis disorder 9B | AR |
| Rhizomelic chondrodysplasia punctata, type 1 | AR | ||
| PFKM | 610681 | Glycogen storage disease VII | AR |
| PHGDH | 606879 | Phosphoglycerate dehydrogenase deficiency | AR |
| Neu-Laxova syndrome 1 | AR | ||
| PKHD1 | 606702 | Polycystic kidney disease 4, with or without hepatic disease | AR |
| PMM2 | 601785 | Congenital disorder of glycosylation, type Ia | AR |
| POLG | 174763 | Progressive external ophthalmoplegia, autosomal recessive 1 | AR |
| Progressive external ophthalmoplegia, autosomal dominant 1 | AD | ||
| Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) | AR | ||
| Mitochondrial DNA depletion syndrome 4B (MNGIE type) | AR | ||
| Mitochondrial DNA depletion syndrome 4A (Alpers type) | AR | ||
| POMGNT1 | 606822 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | AR | ||
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | AR | ||
| Retinitis pigmentosa 76 | AR | ||
| POMT1 | 607423 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | AR | ||
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 | AR | ||
| POMT2 | 607439 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 | AR |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | AR | ||
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | AR | ||
| PPT1 | 600722 | Ceroid lipofuscinosis, neuronal, 1 | AR |
| PRPS1 | 311850 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | XLR |
| Deafness, X-linked 1 | XL | ||
| Phosphoribosylpyrophosphate synthetase superactivity | XLR | ||
| Arts syndrome | XLR | ||
| Gout, PRPS-related | XLR | ||
| PSAP | 176801 | Combined SAP deficiency | AR |
| Gaucher disease, atypical | - | ||
| Krabbe disease, atypical | AR | ||
| Parkinson disease 24, autosomal dominant, susceptibility to | AD | ||
| Metachromatic leukodystrophy due to SAP-b deficiency | AR | ||
| PUS1 | - | Myopathy, lactic acidosis, and sideroblastic anemia 1 | AR |
| PYGL | 613741 | Glycogen storage disease VI | AR |
| PYGM | 608455 | McArdle disease | AR |
| RAB23 | 606144 | Carpenter syndrome | AR |
| RAG1 | 179615 | Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity | - |
| Omenn syndrome | AR | ||
| Severe combined immunodeficiency, B cell-negative | AR | ||
| Combined cellular and humoral immune defects with granulomas | AR | ||
| RAG2 | 179616 | Omenn syndrome | AR |
| Combined cellular and humoral immune defects with granulomas | AR | ||
| Severe combined immunodeficiency, B cell-negative | AR | ||
| RAPSN | 601592 | Fetal akinesia deformation sequence 2 | AR |
| Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | AR | ||
| RARS2 | 611524 | Pontocerebellar hypoplasia, type 6 | AR |
| RDH12 | 608830 | Leber congenital amaurosis 13 | AD, AR |
| RNASEH2A | 606034 | Aicardi-Goutieres syndrome 4 | AR |
| RNASEH2B | 610326 | Aicardi-Goutieres syndrome 2 | AR |
| RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
| RPE65 | 180069 | Leber congenital amaurosis 2 | AR |
| Retinitis pigmentosa 20 | AR | ||
| Retinitis pigmentosa 87 with choroidal involvement | AD | ||
| RS1 | 300839 | Retinoschisis | XLR |
| RTEL1 | 608833 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 | AD |
| Dyskeratosis congenita, autosomal dominant 4 | AD, AR | ||
| Dyskeratosis congenita, autosomal recessive 5 | AD, AR | ||
| SACS | 604490 | Spastic ataxia, Charlevoix-Saguenay type | AR |
| SAMD9 | 610456 | Monosomy 7 myelodysplasia and leukemia syndrome 2 | AD |
| MIRAGE syndrome | AD | ||
| Tumoral calcinosis, familial, normophosphatemic | AR | ||
| SAMHD1 | 606754 | ?Chilblain lupus 2 | AD |
| Aicardi-Goutieres syndrome 5 | AR | ||
| SBDS | 607444 | Aplastic anemia, susceptibility to | - |
| Shwachman-Diamond syndrome | AR | ||
| SEPSECS | 613009 | Pontocerebellar hypoplasia type 2D | AR |
| SERPINA1 | 107400 | Hemorrhagic diathesis due to antithrombin Pittsburgh | AR |
| Emphysema-cirrhosis, due to AAT deficiency | AR | ||
| Emphysema due to AAT deficiency | AR | ||
| SGCA | 600119 | Muscular dystrophy, limb-girdle, autosomal recessive 3 | AR |
| SGCB | 600900 | Muscular dystrophy, limb-girdle, autosomal recessive 4 | AR |
| SGCG | 608896 | Muscular dystrophy, limb-girdle, autosomal recessive 5 | AR |
| SGSH | 605270 | Mucopolysaccharidosis type IIIA (Sanfilippo A) | AR |
| SLC12A3 | 600968 | Gitelman syndrome | AR |
| SLC12A6 | 604878 | Agenesis of the corpus callosum with peripheral neuropathy | AR |
| Charcot-Marie-Tooth disease, axonal, type 2II | - | ||
| SLC17A5 | 604322 | Sialic acid storage disorder, infantile | AR |
| Salla disease | AR | ||
| SLC22A5 | 603377 | Carnitine deficiency, systemic primary | AR |
| SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
| SLC26A2 | 606718 | Diastrophic dysplasia, broad bone-platyspondylic variant | AR |
| Achondrogenesis Ib | AR | ||
| Epiphyseal dysplasia, multiple, 4 | AR | ||
| De la Chapelle dysplasia | AR | ||
| Diastrophic dysplasia | AR | ||
| Atelosteogenesis, type II | AR | ||
| SLC26A4 | 605646 | Pendred syndrome | AR |
| Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | AR | ||
| SLC35A3 | 605632 | ?Arthrogryposis, mental retardation, and seizures | AR |
| SLC39A4 | 607059 | Acrodermatitis enteropathica | AR |
| SLC4A11 | 610206 | Corneal endothelial dystrophy, autosomal recessive | AR |
| Corneal dystrophy, Fuchs endothelial, 4 | - | ||
| Corneal endothelial dystrophy and perceptive deafness | AR | ||
| SLC6A8 | 300036 | Cerebral creatine deficiency syndrome 1 | XLR |
| SMN1 | 600354 | Spinal muscular atrophy-3 | AR |
| Spinal muscular atrophy-1 | AR | ||
| Spinal muscular atrophy-2 | AR | ||
| Spinal muscular atrophy-4 | AR | ||
| SMPD1 | 607608 | Niemann-Pick disease, type A | AR |
| Niemann-Pick disease, type B | AR | ||
| ST3GAL5 | 604402 | Salt and pepper developmental regression syndrome | AR |
| STAR | 600617 | Lipoid adrenal hyperplasia | AR |
| STS | 300747 | Ichthyosis, X-linked | XLR |
| SUMF1 | 607939 | Multiple sulfatase deficiency | AR |
| TAT | 613018 | Tyrosinemia, type II | AR |
| TCIRG1 | 604592 | Osteopetrosis, autosomal recessive 1 | AR |
| TECPR2 | 615000 | Spastic paraplegia 49, autosomal recessive | AR |
| TFR2 | 604720 | Hemochromatosis, type 3 | AR |
| TGM1 | 190195 | Ichthyosis, congenital, autosomal recessive 1 | AR |
| TH | 191290 | Segawa syndrome, recessive | AR |
| TMEM216 | 613277 | Meckel syndrome 2 | AR |
| Joubert syndrome 2 | AR | ||
| TPP1 | 607998 | Ceroid lipofuscinosis, neuronal, 2 | AR |
| Spinocerebellar ataxia, autosomal recessive 7 | AR | ||
| TREX1 | 606609 | Aicardi-Goutieres syndrome 1, dominant and recessive | AD, AR |
| Chilblain lupus | AD | ||
| Vasculopathy, retinal, with cerebral leukodystrophy | AD | ||
| Systemic lupus erythematosus, susceptibility to | AD | ||
| TRIM37 | 605073 | Mulibrey nanism | AR |
| TSEN2 | 608753 | Pontocerebellar hypoplasia type 2B | AR |
| TSEN34 | 608754 | ?Pontocerebellar hypoplasia type 2C | AR |
| TSEN54 | 608755 | Pontocerebellar hypoplasia type 2A | AR |
| ?Pontocerebellar hypoplasia type 5 | AR | ||
| Pontocerebellar hypoplasia type 4 | AR | ||
| TTC8 | - | Bardet-Biedl syndrome 8 | AR |
| ?Retinitis pigmentosa 51 | AR | ||
| TTN | 188840 | Cardiomyopathy, dilated, 1G | - |
| Muscular dystrophy, limb-girdle, autosomal recessive 10 | AR | ||
| Tibial muscular dystrophy, tardive | AD | ||
| Myopathy, myofibrillar, 9, with early respiratory failure | AD | ||
| Salih myopathy | AR | ||
| Cardiomyopathy, familial hypertrophic, 9 | AD | ||
| TTPA | 600415 | Ataxia with isolated vitamin E deficiency | AR |
| UBR1 | 605981 | Johanson-Blizzard syndrome | AR |
| UGT1A1 | 191740 | [Gilbert syndrome] | AR |
| Crigler-Najjar syndrome, type II | AR | ||
| Crigler-Najjar syndrome, type I | AR | ||
| Hyperbilirubinemia, familial transient neonatal | AD, AR | ||
| [Bilirubin, serum level of, QTL1] | - | ||
| USH1C | 605242 | Usher syndrome, type 1C | AR |
| Deafness, autosomal recessive 18A | AR | ||
| USH2A | 608400 | Usher syndrome, type 2A | AR |
| Retinitis pigmentosa 39 | - | ||
| VPS13A | 605978 | Choreoacanthocytosis | AR |
| VPS53 | 615850 | Pontocerebellar hypoplasia, type 2E | AR |
| VRK1 | 602168 | Pontocerebellar hypoplasia type 1A | AR |
| XPA | 611153 | Xeroderma pigmentosum, group A | AR |
| XPC | 613208 | Xeroderma pigmentosum, group C | AR |
| ZFYVE26 | 612012 | Spastic paraplegia 15, autosomal recessive | AR |
CentoScreen® Duo
Includes complete panel evaluation with CNV analysis of 34 genes for each partner.
| No. of genes: | 330 |
|---|---|
| TAT: | 25 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
MLPA: SMN1
Sanger sequencing: CYP21A2
Repeat expansion analysis: FMR1
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| AAAS | 605378 | Achalasia-addisonianism-alacrimia syndrome | AR |
| ABCB11 | 603201 | Cholestasis, benign recurrent intrahepatic, 2 | AR |
| Cholestasis, progressive familial intrahepatic 2 | AR | ||
| ABCC6 | 603234 | Pseudoxanthoma elasticum, forme fruste | AD |
| Arterial calcification, generalized, of infancy, 2 | AR | ||
| Pseudoxanthoma elasticum | AR | ||
| ABCC8 | 600509 | Diabetes mellitus, transient neonatal 2 | - |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| Hyperinsulinemic hypoglycemia, familial, 1 | AD, AR | ||
| Hypoglycemia of infancy, leucine-sensitive | AD | ||
| Diabetes mellitus, permanent neonatal 3, with or without neurologic features | AD, AR | ||
| ABCD1 | 300371 | Adrenoleukodystrophy | XLR |
| Adrenomyeloneuropathy, adult | XLR | ||
| ACADM | 607008 | Acyl-CoA dehydrogenase, medium chain, deficiency of | AR |
| ACADS | 606885 | Acyl-CoA dehydrogenase, short-chain, deficiency of | AR |
| ACADSB | 600301 | 2-methylbutyrylglycinuria | AR |
| ACADVL | 609575 | VLCAD deficiency | AR |
| ACAT1 | 607809 | Alpha-methylacetoacetic aciduria | AR |
| ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency | AR |
| Mitchell syndrome | AD | ||
| ADA | 608958 | Adenosine deaminase deficiency, partial | AR, Somatic mosaicism |
| Severe combined immunodeficiency due to ADA deficiency | AR, Somatic mosaicism | ||
| ADAMTS2 | 604539 | Ehlers-Danlos syndrome, dermatosparaxis type | AR |
| ADAR | 146920 | Aicardi-Goutieres syndrome 6 | AR |
| Dyschromatosis symmetrica hereditaria | AD | ||
| ADGRG1 | 604110 | Polymicrogyria, bilateral perisylvian | - |
| Polymicrogyria, bilateral frontoparietal | AR | ||
| AGA | 613228 | Aspartylglucosaminuria | AR |
| AGL | 610860 | Glycogen storage disease IIIb | AR |
| Glycogen storage disease IIIa | AR | ||
| AGPS | 603051 | Rhizomelic chondrodysplasia punctata, type 3 | AR |
| AGXT | 604285 | Hyperoxaluria, primary, type 1 | AR |
| AIRE | 607358 | Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia | AD, AR |
| ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
| ALDH7A1 | 107323 | Epilepsy, pyridoxine-dependent | AR |
| ALDOB | 612724 | Fructose intolerance, hereditary | AR |
| ALG6 | 604566 | Congenital disorder of glycosylation, type Ic | AR |
| ALPL | 171760 | Hypophosphatasia, infantile | AR |
| Odontohypophosphatasia | AD, AR | ||
| Hypophosphatasia, childhood | AR | ||
| Hypophosphatasia, adult | AD, AR | ||
| AMT | 238310 | Glycine encephalopathy | AR |
| AP1S1 | 603531 | MEDNIK syndrome | AR |
| AP3B1 | 603401 | Hermansky-Pudlak syndrome 2 | AR |
| AR | 313700 | Androgen insensitivity | XLR |
| Androgen insensitivity, partial, with or without breast cancer | XLR | ||
| Prostate cancer, susceptibility to | AD, SM | ||
| Spinal and bulbar muscular atrophy of Kennedy | XLR | ||
| Hypospadias 1, X-linked | XLR | ||
| ARSA | 607574 | Metachromatic leukodystrophy | AR |
| ARSB | 611542 | Mucopolysaccharidosis type VI (Maroteaux-Lamy) | AR |
| ASL | 608310 | Argininosuccinic aciduria | AR |
| ASNS | 108370 | Asparagine synthetase deficiency | AR |
| ASPA | 608034 | Canavan disease | AR |
| ASS1 | 603470 | Citrullinemia | AR |
| ATM | 607585 | Breast cancer, susceptibility to | AD, SM |
| Ataxia-telangiectasia | AR | ||
| ATP13A2 | 610513 | Spastic paraplegia 78, autosomal recessive | AR |
| Kufor-Rakeb syndrome | AR | ||
| ATP6V1B1 | 192132 | Distal renal tubular acidosis 2 with progressive sensorineural hearing loss | AR |
| ATP7B | 606882 | Wilson disease | AR |
| BBS1 | 209901 | Bardet-Biedl syndrome 1 | AR, DR |
| BBS10 | 610148 | Bardet-Biedl syndrome 10 | AR |
| BBS12 | 610683 | Bardet-Biedl syndrome 12 | AR |
| BBS2 | 606151 | Bardet-Biedl syndrome 2 | AR |
| Retinitis pigmentosa 74 | AR | ||
| BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
| BBS7 | 607590 | Bardet-Biedl syndrome 7 | AR |
| BBS9 | 607968 | Bardet-Biedl syndrome 9 | AR |
| BCKDHA | 608348 | Maple syrup urine disease, type Ia | AR |
| BCKDHB | 248611 | Maple syrup urine disease, type Ib | AR |
| BCS1L | 603647 | GRACILE syndrome | AR |
| Bjornstad syndrome | AR | ||
| Mitochondrial complex III deficiency, nuclear type 1 | AR | ||
| BLM | 604610 | Bloom syndrome | AR |
| BSND | 606412 | Bartter syndrome, type 4a | AR |
| Sensorineural deafness with mild renal dysfunction | AR | ||
| BTD | 609019 | Biotinidase deficiency | AR |
| CANT1 | 613165 | Desbuquois dysplasia 1 | AR |
| Epiphyseal dysplasia, multiple, 7 | AR | ||
| CAPN3 | 114240 | Muscular dystrophy, limb-girdle, autosomal dominant 4 | AD |
| Muscular dystrophy, limb-girdle, autosomal recessive 1 | AR | ||
| CBS | 613381 | Thrombosis, hyperhomocysteinemic | AR |
| Homocystinuria, B6-responsive and nonresponsive types | AR | ||
| CDH23 | 605516 | Deafness, autosomal recessive 12 | AR |
| Usher syndrome, type 1D | AR, DR | ||
| Usher syndrome, type 1D/F digenic | AR, DR | ||
| Pituitary adenoma 5, multiple types | AD | ||
| CEP290 | 610142 | Leber congenital amaurosis 10 | - |
| Meckel syndrome 4 | AR | ||
| ?Bardet-Biedl syndrome 14 | AR | ||
| Senior-Loken syndrome 6 | AR | ||
| Joubert syndrome 5 | AR | ||
| CERKL | 608381 | Retinitis pigmentosa 26 | AR |
| CFTR | 602421 | Congenital bilateral absence of vas deferens | AR |
| Pancreatitis, hereditary | AD | ||
| Bronchiectasis with or without elevated sweat chloride 1, modifier of | AD | ||
| Cystic fibrosis | AR | ||
| CHAT | 118490 | Myasthenic syndrome, congenital, 6, presynaptic | AR |
| CHM | 300390 | Choroideremia | XL |
| CHRNE | 100725 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | AR |
| Myasthenic syndrome, congenital, 4A, slow-channel | AD, AR | ||
| Myasthenic syndrome, congenital, 4B, fast-channel | AR | ||
| CLN3 | 607042 | Ceroid lipofuscinosis, neuronal, 3 | AR |
| CLN5 | - | Ceroid lipofuscinosis, neuronal, 5 | AR |
| CLN6 | 606725 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset | AR |
| Ceroid lipofuscinosis, neuronal, 6 | AR | ||
| CLN8 | 607837 | Ceroid lipofuscinosis, neuronal, 8 | AR |
| Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant | AR | ||
| CLRN1 | 606397 | Retinitis pigmentosa 61 | - |
| Usher syndrome, type 3A | AR | ||
| CNGA3 | 600053 | Achromatopsia 2 | AR |
| CNGB3 | 605080 | Achromatopsia 3 | AR |
| COL4A3 | 120070 | Alport syndrome 3, autosomal dominant | AD |
| Hematuria, benign familial | AD | ||
| Alport syndrome 2, autosomal recessive | AR | ||
| COL4A4 | 120131 | Alport syndrome 2, autosomal recessive | AR |
| Hematuria, familial benign | AD | ||
| COL4A5 | 303630 | Alport syndrome 1, X-linked | XLD |
| COL7A1 | 120120 | Epidermolysis bullosa dystrophica, AR | AR |
| Epidermolysis bullosa dystrophica, AD | AD | ||
| Epidermolysis bullosa pruriginosa | AD, AR | ||
| Transient bullous of the newborn | AD, AR | ||
| Epidermolysis bullosa, pretibial | AD, AR | ||
| Toenail dystrophy, isolated | AD | ||
| EBD, Bart type | AD | ||
| EBD inversa | AR | ||
| COLQ | 603033 | Myasthenic syndrome, congenital, 5 | AR |
| CPT1A | 600528 | CPT deficiency, hepatic, type IA | AR |
| CPT2 | 600650 | CPT II deficiency, myopathic, stress-induced | AD, AR |
| CPT II deficiency, infantile | AR | ||
| Encephalopathy, acute, infection-induced, 4, susceptibility to | AD, AR | ||
| CPT II deficiency, lethal neonatal | AR | ||
| CRB1 | 604210 | Leber congenital amaurosis 8 | AR |
| Retinitis pigmentosa-12 | AR | ||
| Pigmented paravenous chorioretinal atrophy | AD | ||
| CRPPA | 614631 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | AR |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | AR | ||
| CTNS | 606272 | Cystinosis, late-onset juvenile or adolescent nephropathic | AR |
| Cystinosis, ocular nonnephropathic | AR | ||
| Cystinosis, nephropathic | AR | ||
| Cystinosis, atypical nephropathic | AR | ||
| CTSD | 116840 | Ceroid lipofuscinosis, neuronal, 10 | AR |
| CTSF | 603539 | Ceroid lipofuscinosis, neuronal, 13, Kufs type | AR |
| CTSK | 601105 | Pycnodysostosis | AR |
| CYP11B1 | 610613 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | AR |
| Aldosteronism, glucocorticoid-remediable | AD | ||
| CYP11B2 | 124080 | Hypoaldosteronism, congenital, due to CMO II deficiency | AR |
| Hypoaldosteronism, congenital, due to CMO I deficiency | AR | ||
| CYP17A1 | 609300 | 17, 20-lyase deficiency, isolated | AR |
| 17-alpha-hydroxylase/17, 20-lyase deficiency | AR | ||
| CYP19A1 | 107910 | Aromatase excess syndrome | AD |
| Aromatase deficiency | - | ||
| CYP1B1 | 601771 | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset | AR |
| Anterior segment dysgenesis 6, multiple subtypes | AR | ||
| CYP21A2 | 613815 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | AR |
| Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency | AR | ||
| CYP27A1 | 606530 | Cerebrotendinous xanthomatosis | AR |
| CYP27B1 | 609506 | Vitamin D-dependent rickets, type I | AR |
| DBT | 248610 | Maple syrup urine disease, type II | AR |
| DCLRE1C | 605988 | Omenn syndrome | AR |
| Severe combined immunodeficiency, Athabascan type | AR | ||
| DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
| DHDDS | 608172 | Developmental delay and seizures with or without movement abnormalities | AD |
| Retinitis pigmentosa 59 | AR | ||
| ?Congenital disorder of glycosylation, type 1bb | AR | ||
| DKC1 | 300126 | Dyskeratosis congenita, X-linked | XLR |
| DLD | 238331 | Dihydrolipoamide dehydrogenase deficiency | AR |
| DMD | 300377 | Cardiomyopathy, dilated, 3B | XL |
| Duchenne muscular dystrophy | XLR | ||
| Becker muscular dystrophy | XLR | ||
| DNAH5 | 603335 | Ciliary dyskinesia, primary, 3, with or without situs inversus | AR |
| DNAI1 | 604366 | Ciliary dyskinesia, primary, 1, with or without situs inversus | AR |
| DNAI2 | 605483 | Ciliary dyskinesia, primary, 9, with or without situs inversus | AR |
| DNAJC5 | 611203 | Ceroid lipofuscinosis, neuronal, 4, Parry type | AD |
| DOK7 | 610285 | Fetal akinesia deformation sequence 3 | AR |
| Myasthenic syndrome, congenital, 10 | AR | ||
| DPYD | 612779 | 5-fluorouracil toxicity | AR |
| Dihydropyrimidine dehydrogenase deficiency | AR | ||
| DYSF | 603009 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | AR |
| Myopathy, distal, with anterior tibial onset | AR | ||
| Miyoshi muscular dystrophy 1 | AR | ||
| EDA | 300451 | Tooth agenesis, selective, X-linked 1 | XLD |
| Ectodermal dysplasia 1, hypohidrotic, X-linked | XLR | ||
| EDAR | 604095 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | AR |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | AD | ||
| [Hair morphology 1, hair thickness] | - | ||
| ELP1 | 603722 | Dysautonomia, familial | AR |
| Medulloblastoma | AD, AR, SM | ||
| EMD | 300384 | Emery-Dreifuss muscular dystrophy 1, X-linked | XLR |
| ERCC2 | 126340 | ?Cerebrooculofacioskeletal syndrome 2 | AR |
| Xeroderma pigmentosum, group D | AR | ||
| Trichothiodystrophy 1, photosensitive | AR | ||
| ETFA | - | Glutaric acidemia IIA | AR |
| ETFB | 130410 | Glutaric acidemia IIB | AR |
| ETFDH | 231675 | Glutaric acidemia IIC | AR |
| ETHE1 | 608451 | Ethylmalonic encephalopathy | AR |
| EXOSC3 | 606489 | Pontocerebellar hypoplasia, type 1B | AR |
| EYS | 612424 | Retinitis pigmentosa 25 | AR |
| F11 | 264900 | Factor XI deficiency, autosomal dominant | - |
| Factor XI deficiency, autosomal recessive | - | ||
| F8 | 300841 | Thrombophilia 13, X-linked, due to factor VIII defect | - |
| Hemophilia A | XLR | ||
| F9 | 300746 | Warfarin sensitivity | XL |
| Thrombophilia, X-linked, due to factor IX defect | XLR | ||
| Hemophilia B | XLR | ||
| Deep venous thrombosis, protection against | XLR | ||
| FAH | 613871 | Tyrosinemia, type I | AR |
| FAM161A | 613596 | Retinitis pigmentosa 28 | - |
| FANCA | 607139 | Fanconi anemia, complementation group A | AR |
| FANCC | 613899 | Fanconi anemia, complementation group C | AR |
| FANCG | 602956 | Fanconi anemia, complementation group G | AR |
| FH | 136850 | Fumarase deficiency | AR |
| Leiomyomatosis and renal cell cancer | AD | ||
| FKRP | 606596 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 | AR | ||
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | AR | ||
| FKTN | 607440 | Cardiomyopathy, dilated, 1X | AR |
| Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 | AR | ||
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | AR | ||
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | AR | ||
| FMR1 | 309550 | Premature ovarian failure 1 | XL |
| Fragile X syndrome | XLD | ||
| Fragile X tremor/ataxia syndrome | XLD | ||
| G6PC1 | 613742 | Glycogen storage disease Ia | AR |
| G6PD | 305900 | Resistance to malaria due to G6PD deficiency | - |
| Hemolytic anemia, G6PD deficient (favism) | XLD | ||
| GAA | 606800 | Glycogen storage disease II | AR |
| GALC | 606890 | Krabbe disease | AR |
| GALE | 606953 | Galactose epimerase deficiency | AR |
| GALK1 | 604313 | Galactokinase deficiency with cataracts | AR |
| GALNT3 | 601756 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | AR |
| GALT | 606999 | Galactosemia | AR |
| GAMT | 601240 | Cerebral creatine deficiency syndrome 2 | AR |
| GBA | 606463 | Lewy body dementia, susceptibility to | AD |
| Gaucher disease, type IIIC | AR | ||
| Parkinson disease, late-onset, susceptibility to | AD, MF | ||
| Gaucher disease, type II | AR | ||
| Gaucher disease, type III | AR | ||
| Gaucher disease, perinatal lethal | AR | ||
| Gaucher disease, type I | AR | ||
| GBE1 | 607839 | Glycogen storage disease IV | AR |
| Polyglucosan body disease, adult form | AR | ||
| GCDH | 608801 | Glutaricaciduria, type I | AR |
| GCSH | 238330 | ?Glycine encephalopathy | AR |
| GDF5 | 601146 | Du Pan syndrome | AR |
| Brachydactyly, type C | AD | ||
| Osteoarthritis-5 | - | ||
| Multiple synostoses syndrome 2 | AD | ||
| Chondrodysplasia, Grebe type | AR | ||
| Brachydactyly, type A1, C | AD, AR | ||
| ?Acromesomelic dysplasia, Hunter-Thompson type | AR | ||
| Brachydactyly, type A2 | AD | ||
| Symphalangism, proximal, 1B | AD | ||
| GFPT1 | 138292 | Myasthenia, congenital, 12, with tubular aggregates | AR |
| GJB1 | 304040 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | XLD |
| GJB2 | 121011 | Keratoderma, palmoplantar, with deafness | AD |
| Keratitis-ichthyosis-deafness syndrome | AD | ||
| Deafness, autosomal dominant 3A | AD | ||
| Hystrix-like ichthyosis with deafness | AD | ||
| Bart-Pumphrey syndrome | AD | ||
| Vohwinkel syndrome | AD | ||
| Deafness, autosomal recessive 1A | AR, DD | ||
| GJB6 | 604418 | Deafness, autosomal recessive 1B | AR |
| Deafness, digenic GJB2/GJB6 | AR, DD | ||
| Ectodermal dysplasia 2, Clouston type | AD | ||
| Deafness, autosomal dominant 3B | AD | ||
| GLA | 300644 | Fabry disease | XL |
| Fabry disease, cardiac variant | XL | ||
| GLB1 | 611458 | GM1-gangliosidosis, type II | AR |
| GM1-gangliosidosis, type I | AR | ||
| Mucopolysaccharidosis type IVB (Morquio) | AR | ||
| GM1-gangliosidosis, type III | AR | ||
| GLDC | 238300 | Glycine encephalopathy | AR |
| GNE | 603824 | Nonaka myopathy | AR |
| Sialuria | AD | ||
| GNPAT | 602744 | Rhizomelic chondrodysplasia punctata, type 2 | AR |
| GNPTAB | 607840 | Mucolipidosis III alpha/beta | AR |
| Mucolipidosis II alpha/beta | AR | ||
| GNPTG | 607838 | Mucolipidosis III gamma | AR |
| GNS | 607664 | Mucopolysaccharidosis type IIID | AR |
| GORAB | 607983 | Geroderma osteodysplasticum | AR |
| GRHPR | 604296 | Hyperoxaluria, primary, type II | AR |
| GRN | 138945 | Ceroid lipofuscinosis, neuronal, 11 | AR |
| Frontotemporal lobar degeneration with ubiquitin-positive inclusions | AD | ||
| Aphasia, primary progressive | AD | ||
| GUCY2D | 600179 | Cone-rod dystrophy 6 | AD, AR |
| Leber congenital amaurosis 1 | AR | ||
| Night blindness, congenital stationary, type 1I | AR | ||
| ?Choroidal dystrophy, central areolar 1 | AD | ||
| HADH | 601609 | 3-hydroxyacyl-CoA dehydrogenase deficiency | AR |
| Hyperinsulinemic hypoglycemia, familial, 4 | AR | ||
| HADHA | 600890 | HELLP syndrome, maternal, of pregnancy | AR |
| LCHAD deficiency | AR | ||
| Fatty liver, acute, of pregnancy | AR | ||
| Mitochondrial trifunctional protein deficiency | AR | ||
| HADHB | 143450 | Trifunctional protein deficiency | AR |
| HAX1 | 605998 | Neutropenia, severe congenital 3, autosomal recessive | AR |
| HBA1 | 141800 | Methemoglobinemia, alpha type | AD |
| Heinz body anemias, alpha- | AD | ||
| Erythrocytosis 7 | AD | ||
| Thalassemias, alpha- | - | ||
| Hemoglobin H disease, nondeletional | - | ||
| HBA2 | 141850 | Thalassemia, alpha- | - |
| Erythrocytosis 7 | AD | ||
| Heinz body anemia | AD | ||
| Hemoglobin H disease, deletional and nondeletional | - | ||
| HBB | 141900 | Erythrocytosis 6 | AD |
| Methemoglobinemia, beta type | AD | ||
| Delta-beta thalassemia | AD | ||
| Thalassemia-beta, dominant inclusion-body | AD | ||
| Sickle cell anemia | AR | ||
| Hereditary persistence of fetal hemoglobin | AD | ||
| Malaria, resistance to | - | ||
| Thalassemia, beta | - | ||
| Heinz body anemia | AD | ||
| HEPACAM | 611642 | Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation | AD |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A | AR | ||
| HEXA | 606869 | Tay-Sachs disease | AR |
| [Hex A pseudodeficiency] | AR | ||
| GM2-gangliosidosis, several forms | AR | ||
| HEXB | 606873 | Sandhoff disease, infantile, juvenile, and adult forms | AR |
| HGD | 607474 | Alkaptonuria | AR |
| HGSNAT | 610453 | Mucopolysaccharidosis type IIIC (Sanfilippo C) | AR |
| Retinitis pigmentosa 73 | AR | ||
| HJV | 608374 | Hemochromatosis, type 2A | AR |
| HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
| HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
| HOGA1 | 613597 | Hyperoxaluria, primary, type III | AR |
| HPRT1 | 308000 | Hyperuricemia, HRPT-related | XLR |
| Lesch-Nyhan syndrome | XLR | ||
| HPS1 | 604982 | Hermansky-Pudlak syndrome 1 | AR |
| HPS3 | 606118 | Hermansky-Pudlak syndrome 3 | AR |
| HPS4 | 606682 | Hermansky-Pudlak syndrome 4 | AR |
| HPS5 | 607521 | Hermansky-Pudlak syndrome 5 | AR |
| HPS6 | 607522 | Hermansky-Pudlak syndrome 6 | AR |
| HSD17B3 | 605573 | Pseudohermaphroditism, male, with gynecomastia | AR |
| HSD17B4 | 601860 | Perrault syndrome 1 | AR |
| D-bifunctional protein deficiency | AR | ||
| HSD3B2 | 613890 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR |
| IDS | 300823 | Mucopolysaccharidosis II | XLR |
| IDUA | 252800 | Mucopolysaccharidosis Is | AR |
| Mucopolysaccharidosis Ih/s | AR | ||
| Mucopolysaccharidosis Ih | AR | ||
| IL2RG | 308380 | Severe combined immunodeficiency, X-linked | XLR |
| Combined immunodeficiency, X-linked, moderate | XLR | ||
| IVD | 607036 | Isovaleric acidemia | AR |
| KCNJ11 | 600937 | Maturity-onset diabetes of the young, type 13 | AD |
| Diabetes mellitus, transient neonatal 3 | AD | ||
| Hyperinsulinemic hypoglycemia, familial, 2 | AD, AR | ||
| Diabetes, permanent neonatal 2, with or without neurologic features | AD | ||
| Diabetes mellitus, type 2, susceptibility to | AD | ||
| KCTD7 | 611725 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | AR |
| L1CAM | 308840 | Hydrocephalus with congenital idiopathic intestinal pseudoobstruction | XLR |
| CRASH syndrome | XLR | ||
| Corpus callosum, partial agenesis of | XLR | ||
| Hydrocephalus with Hirschsprung disease | XLR | ||
| MASA syndrome | XLR | ||
| Hydrocephalus due to aqueductal stenosis | XLR | ||
| LAMA3 | 600805 | Laryngoonychocutaneous syndrome | AR |
| Epidermolysis bullosa, junctional, Herlitz type | AR | ||
| Epidermolysis bullosa, junctional 2B, severe | - | ||
| Epidermolysis bullosa, generalized atrophic benign | AR | ||
| Epidermolysis bullosa, junctional 2A, intermediate | - | ||
| LAMB3 | 150310 | Epidermolysis bullosa, junctional, non-Herlitz type | AR |
| Amelogenesis imperfecta, type IA | AD | ||
| Epidermolysis bullosa, junctional, Herlitz type | AR | ||
| LAMC2 | 150292 | Epidermolysis bullosa, junctional, non-Herlitz type | AR |
| Epidermolysis bullosa, junctional, Herlitz type | AR | ||
| Epidermolysis bullosa, junctional 3B, severe | - | ||
| Epidermolysis bullosa, junctional 3A, intermediate | - | ||
| LARGE1 | 603590 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 | AR | ||
| LCA5 | 611408 | Leber congenital amaurosis 5 | AR |
| LHCGR | 152790 | Leydig cell hypoplasia with pseudohermaphroditism | AR |
| Leydig cell adenoma, somatic, with precocious puberty | - | ||
| Precocious puberty, male | AD | ||
| Leydig cell hypoplasia with hypergonadotropic hypogonadism | AR | ||
| Luteinizing hormone resistance, female | AR | ||
| LIFR | 151443 | Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome | AR |
| LIPA | 613497 | Wolman disease | AR |
| Cholesteryl ester storage disease | AR | ||
| LIPH | 607365 | Woolly hair, autosomal recessive 2 with or without hypotrichosis | AR |
| Hypotrichosis 7 | AR | ||
| LOXHD1 | 613072 | Deafness, autosomal recessive 77 | AR |
| LPL | 609708 | [High density lipoprotein cholesterol level QTL 11] | AR |
| Combined hyperlipidemia, familial | AD | ||
| Lipoprotein lipase deficiency | AR | ||
| LRPPRC | 607544 | Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) | AR |
| LYST | 606897 | Chediak-Higashi syndrome | AR |
| MAN2B1 | 609458 | Mannosidosis, alpha-, types I and II | AR |
| MCCC1 | 609010 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
| MCCC2 | 609014 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | AR |
| MCOLN1 | 605248 | Mucolipidosis IV | AR |
| MED17 | 603810 | Microcephaly, postnatal progressive, with seizures and brain atrophy | AR |
| MEFV | - | Neutrophilic dermatosis, acute febrile | AD |
| Familial Mediterranean fever, AR | AR | ||
| Familial Mediterranean fever, AD | AD | ||
| MFSD8 | 611124 | Ceroid lipofuscinosis, neuronal, 7 | AR |
| Macular dystrophy with central cone involvement | AR | ||
| MKKS | 604896 | McKusick-Kaufman syndrome | AR |
| Bardet-Biedl syndrome 6 | AR | ||
| MKS1 | 609883 | Bardet-Biedl syndrome 13 | AR |
| Joubert syndrome 28 | AR | ||
| Meckel syndrome 1 | AR | ||
| MLC1 | 605908 | Megalencephalic leukoencephalopathy with subcortical cysts | AR |
| MMAA | 607481 | Methylmalonic aciduria, vitamin B12-responsive | AR |
| MMAB | 607568 | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type | AR |
| MMADHC | 611935 | Methylmalonic aciduria and homocystinuria, cblD type | AR |
| Methylmalonic aciduria, cblD type, variant 2 | AR | ||
| Homocystinuria, cblD type, variant 1 | AR | ||
| MMUT | 609058 | Methylmalonic aciduria, mut(0) type | AR |
| MPI | 154550 | Congenital disorder of glycosylation, type Ib | AR |
| MPL | 159530 | Myelofibrosis with myeloid metaplasia, somatic | - |
| Thrombocytopenia, congenital amegakaryocytic | AR | ||
| Thrombocythemia 2 | AD, SM | ||
| MPV17 | 137960 | Charcot-Marie-Tooth disease, axonal, type 2EE | AR |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | AR | ||
| MRE11 | 600814 | Ataxia-telangiectasia-like disorder 1 | AR |
| MTHFR | 607093 | Neural tube defects, susceptibility to | AR |
| Homocystinuria due to MTHFR deficiency | AR | ||
| Schizophrenia, susceptibility to | AD | ||
| Thromboembolism, susceptibility to | AD | ||
| MTM1 | 300415 | Myotubular myopathy, X-linked | XLR |
| MTTP | 157147 | Metabolic syndrome, protection against | AD |
| Abetalipoproteinemia | AR | ||
| MYO7A | 276903 | Deafness, autosomal dominant 11 | AD |
| Usher syndrome, type 1B | AR | ||
| Deafness, autosomal recessive 2 | AR | ||
| NAGLU | 609701 | ?Charcot-Marie-Tooth disease, axonal, type 2V | AD |
| Mucopolysaccharidosis type IIIB (Sanfilippo B) | AR | ||
| NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
| NBN | 602667 | Aplastic anemia | - |
| Leukemia, acute lymphoblastic | - | ||
| Nijmegen breakage syndrome | AR | ||
| NDUFAF6 | 612392 | Mitochondrial complex I deficiency, nuclear type 17 | AR |
| Fanconi renotubular syndrome 5 | AR | ||
| NEB | 161650 | Nemaline myopathy 2, autosomal recessive | AR |
| Arthrogryposis multiplex congenita 6 | AR | ||
| NPC1 | 607623 | Niemann-Pick disease, type C1 | AR |
| Niemann-Pick disease, type D | AR | ||
| NPC2 | 601015 | Niemann-pick disease, type C2 | AR |
| NPHS1 | 602716 | Nephrotic syndrome, type 1 | AR |
| NPHS2 | 604766 | Nephrotic syndrome, type 2 | AR |
| NTRK1 | 191315 | Insensitivity to pain, congenital, with anhidrosis | AR |
| OPA3 | 606580 | 3-methylglutaconic aciduria, type III | AR |
| Optic atrophy 3 with cataract | AD | ||
| OTC | 300461 | Ornithine transcarbamylase deficiency | XL |
| PAH | 612349 | Phenylketonuria | AR |
| [Hyperphenylalaninemia, non-PKU mild] | AR | ||
| PCCA | 232000 | Propionicacidemia | AR |
| PCCB | 232050 | Propionicacidemia | AR |
| PCDH15 | 605514 | Usher syndrome, type 1D/F digenic | AR, DR |
| Deafness, autosomal recessive 23 | AR | ||
| Usher syndrome, type 1F | AR | ||
| PDHA1 | - | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
| PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | AR |
| PEPD | 613230 | Prolidase deficiency | AR |
| PET100 | 614770 | Mitochondrial complex IV deficiency, nuclear type 12 | AR |
| PEX1 | 602136 | Peroxisome biogenesis disorder 1A (Zellweger) | AR |
| Peroxisome biogenesis disorder 1B (NALD/IRD) | AR | ||
| Heimler syndrome 1 | AR | ||
| PEX10 | 602859 | Peroxisome biogenesis disorder 6A (Zellweger) | AR |
| Peroxisome biogenesis disorder 6B | AR | ||
| PEX12 | 601758 | Peroxisome biogenesis disorder 3B | AR |
| Peroxisome biogenesis disorder 3A (Zellweger) | AR | ||
| PEX2 | 170993 | Peroxisome biogenesis disorder 5B | AR |
| Peroxisome biogenesis disorder 5A (Zellweger) | AR | ||
| PEX26 | 608666 | Peroxisome biogenesis disorder 7A (Zellweger) | AR |
| Peroxisome biogenesis disorder 7B | AR | ||
| PEX6 | - | Peroxisome biogenesis disorder 4B | AD, AR |
| Peroxisome biogenesis disorder 4A (Zellweger) | AR | ||
| Heimler syndrome 2 | AR | ||
| PEX7 | 601757 | Peroxisome biogenesis disorder 9B | AR |
| Rhizomelic chondrodysplasia punctata, type 1 | AR | ||
| PFKM | 610681 | Glycogen storage disease VII | AR |
| PHGDH | 606879 | Phosphoglycerate dehydrogenase deficiency | AR |
| Neu-Laxova syndrome 1 | AR | ||
| PKHD1 | 606702 | Polycystic kidney disease 4, with or without hepatic disease | AR |
| PMM2 | 601785 | Congenital disorder of glycosylation, type Ia | AR |
| POLG | 174763 | Progressive external ophthalmoplegia, autosomal recessive 1 | AR |
| Progressive external ophthalmoplegia, autosomal dominant 1 | AD | ||
| Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) | AR | ||
| Mitochondrial DNA depletion syndrome 4B (MNGIE type) | AR | ||
| Mitochondrial DNA depletion syndrome 4A (Alpers type) | AR | ||
| POMGNT1 | 606822 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | AR | ||
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | AR | ||
| Retinitis pigmentosa 76 | AR | ||
| POMT1 | 607423 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | AR | ||
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 | AR | ||
| POMT2 | 607439 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 | AR |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | AR | ||
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | AR | ||
| PPT1 | 600722 | Ceroid lipofuscinosis, neuronal, 1 | AR |
| PRPS1 | 311850 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | XLR |
| Deafness, X-linked 1 | XL | ||
| Phosphoribosylpyrophosphate synthetase superactivity | XLR | ||
| Arts syndrome | XLR | ||
| Gout, PRPS-related | XLR | ||
| PSAP | 176801 | Combined SAP deficiency | AR |
| Gaucher disease, atypical | - | ||
| Krabbe disease, atypical | AR | ||
| Parkinson disease 24, autosomal dominant, susceptibility to | AD | ||
| Metachromatic leukodystrophy due to SAP-b deficiency | AR | ||
| PUS1 | - | Myopathy, lactic acidosis, and sideroblastic anemia 1 | AR |
| PYGL | 613741 | Glycogen storage disease VI | AR |
| PYGM | 608455 | McArdle disease | AR |
| RAB23 | 606144 | Carpenter syndrome | AR |
| RAG1 | 179615 | Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity | - |
| Omenn syndrome | AR | ||
| Severe combined immunodeficiency, B cell-negative | AR | ||
| Combined cellular and humoral immune defects with granulomas | AR | ||
| RAG2 | 179616 | Omenn syndrome | AR |
| Combined cellular and humoral immune defects with granulomas | AR | ||
| Severe combined immunodeficiency, B cell-negative | AR | ||
| RAPSN | 601592 | Fetal akinesia deformation sequence 2 | AR |
| Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | AR | ||
| RARS2 | 611524 | Pontocerebellar hypoplasia, type 6 | AR |
| RDH12 | 608830 | Leber congenital amaurosis 13 | AD, AR |
| RNASEH2A | 606034 | Aicardi-Goutieres syndrome 4 | AR |
| RNASEH2B | 610326 | Aicardi-Goutieres syndrome 2 | AR |
| RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
| RPE65 | 180069 | Leber congenital amaurosis 2 | AR |
| Retinitis pigmentosa 20 | AR | ||
| Retinitis pigmentosa 87 with choroidal involvement | AD | ||
| RS1 | 300839 | Retinoschisis | XLR |
| RTEL1 | 608833 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 | AD |
| Dyskeratosis congenita, autosomal dominant 4 | AD, AR | ||
| Dyskeratosis congenita, autosomal recessive 5 | AD, AR | ||
| SACS | 604490 | Spastic ataxia, Charlevoix-Saguenay type | AR |
| SAMD9 | 610456 | Monosomy 7 myelodysplasia and leukemia syndrome 2 | AD |
| MIRAGE syndrome | AD | ||
| Tumoral calcinosis, familial, normophosphatemic | AR | ||
| SAMHD1 | 606754 | ?Chilblain lupus 2 | AD |
| Aicardi-Goutieres syndrome 5 | AR | ||
| SBDS | 607444 | Aplastic anemia, susceptibility to | - |
| Shwachman-Diamond syndrome | AR | ||
| SEPSECS | 613009 | Pontocerebellar hypoplasia type 2D | AR |
| SERPINA1 | 107400 | Hemorrhagic diathesis due to antithrombin Pittsburgh | AR |
| Emphysema-cirrhosis, due to AAT deficiency | AR | ||
| Emphysema due to AAT deficiency | AR | ||
| SGCA | 600119 | Muscular dystrophy, limb-girdle, autosomal recessive 3 | AR |
| SGCB | 600900 | Muscular dystrophy, limb-girdle, autosomal recessive 4 | AR |
| SGCG | 608896 | Muscular dystrophy, limb-girdle, autosomal recessive 5 | AR |
| SGSH | 605270 | Mucopolysaccharidosis type IIIA (Sanfilippo A) | AR |
| SLC12A3 | 600968 | Gitelman syndrome | AR |
| SLC12A6 | 604878 | Agenesis of the corpus callosum with peripheral neuropathy | AR |
| Charcot-Marie-Tooth disease, axonal, type 2II | - | ||
| SLC17A5 | 604322 | Sialic acid storage disorder, infantile | AR |
| Salla disease | AR | ||
| SLC22A5 | 603377 | Carnitine deficiency, systemic primary | AR |
| SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
| SLC26A2 | 606718 | Diastrophic dysplasia, broad bone-platyspondylic variant | AR |
| Achondrogenesis Ib | AR | ||
| Epiphyseal dysplasia, multiple, 4 | AR | ||
| De la Chapelle dysplasia | AR | ||
| Diastrophic dysplasia | AR | ||
| Atelosteogenesis, type II | AR | ||
| SLC26A4 | 605646 | Pendred syndrome | AR |
| Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | AR | ||
| SLC35A3 | 605632 | ?Arthrogryposis, mental retardation, and seizures | AR |
| SLC39A4 | 607059 | Acrodermatitis enteropathica | AR |
| SLC4A11 | 610206 | Corneal endothelial dystrophy, autosomal recessive | AR |
| Corneal dystrophy, Fuchs endothelial, 4 | - | ||
| Corneal endothelial dystrophy and perceptive deafness | AR | ||
| SLC6A8 | 300036 | Cerebral creatine deficiency syndrome 1 | XLR |
| SMN1 | 600354 | Spinal muscular atrophy-3 | AR |
| Spinal muscular atrophy-1 | AR | ||
| Spinal muscular atrophy-2 | AR | ||
| Spinal muscular atrophy-4 | AR | ||
| SMPD1 | 607608 | Niemann-Pick disease, type A | AR |
| Niemann-Pick disease, type B | AR | ||
| ST3GAL5 | 604402 | Salt and pepper developmental regression syndrome | AR |
| STAR | 600617 | Lipoid adrenal hyperplasia | AR |
| STS | 300747 | Ichthyosis, X-linked | XLR |
| SUMF1 | 607939 | Multiple sulfatase deficiency | AR |
| TAT | 613018 | Tyrosinemia, type II | AR |
| TCIRG1 | 604592 | Osteopetrosis, autosomal recessive 1 | AR |
| TECPR2 | 615000 | Spastic paraplegia 49, autosomal recessive | AR |
| TFR2 | 604720 | Hemochromatosis, type 3 | AR |
| TGM1 | 190195 | Ichthyosis, congenital, autosomal recessive 1 | AR |
| TH | 191290 | Segawa syndrome, recessive | AR |
| TMEM216 | 613277 | Meckel syndrome 2 | AR |
| Joubert syndrome 2 | AR | ||
| TPP1 | 607998 | Ceroid lipofuscinosis, neuronal, 2 | AR |
| Spinocerebellar ataxia, autosomal recessive 7 | AR | ||
| TREX1 | 606609 | Aicardi-Goutieres syndrome 1, dominant and recessive | AD, AR |
| Chilblain lupus | AD | ||
| Vasculopathy, retinal, with cerebral leukodystrophy | AD | ||
| Systemic lupus erythematosus, susceptibility to | AD | ||
| TRIM37 | 605073 | Mulibrey nanism | AR |
| TSEN2 | 608753 | Pontocerebellar hypoplasia type 2B | AR |
| TSEN34 | 608754 | ?Pontocerebellar hypoplasia type 2C | AR |
| TSEN54 | 608755 | Pontocerebellar hypoplasia type 2A | AR |
| ?Pontocerebellar hypoplasia type 5 | AR | ||
| Pontocerebellar hypoplasia type 4 | AR | ||
| TTC8 | - | Bardet-Biedl syndrome 8 | AR |
| ?Retinitis pigmentosa 51 | AR | ||
| TTN | 188840 | Cardiomyopathy, dilated, 1G | - |
| Muscular dystrophy, limb-girdle, autosomal recessive 10 | AR | ||
| Tibial muscular dystrophy, tardive | AD | ||
| Myopathy, myofibrillar, 9, with early respiratory failure | AD | ||
| Salih myopathy | AR | ||
| Cardiomyopathy, familial hypertrophic, 9 | AD | ||
| TTPA | 600415 | Ataxia with isolated vitamin E deficiency | AR |
| UBR1 | 605981 | Johanson-Blizzard syndrome | AR |
| UGT1A1 | 191740 | [Gilbert syndrome] | AR |
| Crigler-Najjar syndrome, type II | AR | ||
| Crigler-Najjar syndrome, type I | AR | ||
| Hyperbilirubinemia, familial transient neonatal | AD, AR | ||
| [Bilirubin, serum level of, QTL1] | - | ||
| USH1C | 605242 | Usher syndrome, type 1C | AR |
| Deafness, autosomal recessive 18A | AR | ||
| USH2A | 608400 | Usher syndrome, type 2A | AR |
| Retinitis pigmentosa 39 | - | ||
| VPS13A | 605978 | Choreoacanthocytosis | AR |
| VPS53 | 615850 | Pontocerebellar hypoplasia, type 2E | AR |
| VRK1 | 602168 | Pontocerebellar hypoplasia type 1A | AR |
| XPA | 611153 | Xeroderma pigmentosum, group A | AR |
| XPC | 613208 | Xeroderma pigmentosum, group C | AR |
| ZFYVE26 | 612012 | Spastic paraplegia 15, autosomal recessive | AR |
CentoScreen® Paired
Includes complete panel evaluation with CNV analysis of 34 genes + risk gene analysis of partners.
| No. of genes: | 330 |
|---|---|
| TAT: | 30 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
Repeat expansion analysis: FMR1
Sanger sequencing: CYP21A2
MLPA: SMN1
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| AAAS | 605378 | Achalasia-addisonianism-alacrimia syndrome | AR |
| ABCB11 | 603201 | Cholestasis, benign recurrent intrahepatic, 2 | AR |
| Cholestasis, progressive familial intrahepatic 2 | AR | ||
| ABCC6 | 603234 | Pseudoxanthoma elasticum, forme fruste | AD |
| Arterial calcification, generalized, of infancy, 2 | AR | ||
| Pseudoxanthoma elasticum | AR | ||
| ABCC8 | 600509 | Diabetes mellitus, transient neonatal 2 | - |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| Hyperinsulinemic hypoglycemia, familial, 1 | AD, AR | ||
| Hypoglycemia of infancy, leucine-sensitive | AD | ||
| Diabetes mellitus, permanent neonatal 3, with or without neurologic features | AD, AR | ||
| ABCD1 | 300371 | Adrenoleukodystrophy | XLR |
| Adrenomyeloneuropathy, adult | XLR | ||
| ACADM | 607008 | Acyl-CoA dehydrogenase, medium chain, deficiency of | AR |
| ACADS | 606885 | Acyl-CoA dehydrogenase, short-chain, deficiency of | AR |
| ACADSB | 600301 | 2-methylbutyrylglycinuria | AR |
| ACADVL | 609575 | VLCAD deficiency | AR |
| ACAT1 | 607809 | Alpha-methylacetoacetic aciduria | AR |
| ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency | AR |
| Mitchell syndrome | AD | ||
| ADA | 608958 | Adenosine deaminase deficiency, partial | AR, Somatic mosaicism |
| Severe combined immunodeficiency due to ADA deficiency | AR, Somatic mosaicism | ||
| ADAMTS2 | 604539 | Ehlers-Danlos syndrome, dermatosparaxis type | AR |
| ADAR | 146920 | Aicardi-Goutieres syndrome 6 | AR |
| Dyschromatosis symmetrica hereditaria | AD | ||
| ADGRG1 | 604110 | Polymicrogyria, bilateral perisylvian | - |
| Polymicrogyria, bilateral frontoparietal | AR | ||
| AGA | 613228 | Aspartylglucosaminuria | AR |
| AGL | 610860 | Glycogen storage disease IIIb | AR |
| Glycogen storage disease IIIa | AR | ||
| AGPS | 603051 | Rhizomelic chondrodysplasia punctata, type 3 | AR |
| AGXT | 604285 | Hyperoxaluria, primary, type 1 | AR |
| AIRE | 607358 | Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia | AD, AR |
| ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
| ALDH7A1 | 107323 | Epilepsy, pyridoxine-dependent | AR |
| ALDOB | 612724 | Fructose intolerance, hereditary | AR |
| ALG6 | 604566 | Congenital disorder of glycosylation, type Ic | AR |
| ALPL | 171760 | Hypophosphatasia, infantile | AR |
| Odontohypophosphatasia | AD, AR | ||
| Hypophosphatasia, childhood | AR | ||
| Hypophosphatasia, adult | AD, AR | ||
| AMT | 238310 | Glycine encephalopathy | AR |
| AP1S1 | 603531 | MEDNIK syndrome | AR |
| AP3B1 | 603401 | Hermansky-Pudlak syndrome 2 | AR |
| AR | 313700 | Androgen insensitivity | XLR |
| Androgen insensitivity, partial, with or without breast cancer | XLR | ||
| Prostate cancer, susceptibility to | AD, SM | ||
| Spinal and bulbar muscular atrophy of Kennedy | XLR | ||
| Hypospadias 1, X-linked | XLR | ||
| ARSA | 607574 | Metachromatic leukodystrophy | AR |
| ARSB | 611542 | Mucopolysaccharidosis type VI (Maroteaux-Lamy) | AR |
| ASL | 608310 | Argininosuccinic aciduria | AR |
| ASNS | 108370 | Asparagine synthetase deficiency | AR |
| ASPA | 608034 | Canavan disease | AR |
| ASS1 | 603470 | Citrullinemia | AR |
| ATM | 607585 | Breast cancer, susceptibility to | AD, SM |
| Ataxia-telangiectasia | AR | ||
| ATP13A2 | 610513 | Spastic paraplegia 78, autosomal recessive | AR |
| Kufor-Rakeb syndrome | AR | ||
| ATP6V1B1 | 192132 | Distal renal tubular acidosis 2 with progressive sensorineural hearing loss | AR |
| ATP7B | 606882 | Wilson disease | AR |
| BBS1 | 209901 | Bardet-Biedl syndrome 1 | AR, DR |
| BBS10 | 610148 | Bardet-Biedl syndrome 10 | AR |
| BBS12 | 610683 | Bardet-Biedl syndrome 12 | AR |
| BBS2 | 606151 | Bardet-Biedl syndrome 2 | AR |
| Retinitis pigmentosa 74 | AR | ||
| BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
| BBS7 | 607590 | Bardet-Biedl syndrome 7 | AR |
| BBS9 | 607968 | Bardet-Biedl syndrome 9 | AR |
| BCKDHA | 608348 | Maple syrup urine disease, type Ia | AR |
| BCKDHB | 248611 | Maple syrup urine disease, type Ib | AR |
| BCS1L | 603647 | GRACILE syndrome | AR |
| Bjornstad syndrome | AR | ||
| Mitochondrial complex III deficiency, nuclear type 1 | AR | ||
| BLM | 604610 | Bloom syndrome | AR |
| BSND | 606412 | Bartter syndrome, type 4a | AR |
| Sensorineural deafness with mild renal dysfunction | AR | ||
| BTD | 609019 | Biotinidase deficiency | AR |
| CANT1 | 613165 | Desbuquois dysplasia 1 | AR |
| Epiphyseal dysplasia, multiple, 7 | AR | ||
| CAPN3 | 114240 | Muscular dystrophy, limb-girdle, autosomal dominant 4 | AD |
| Muscular dystrophy, limb-girdle, autosomal recessive 1 | AR | ||
| CBS | 613381 | Thrombosis, hyperhomocysteinemic | AR |
| Homocystinuria, B6-responsive and nonresponsive types | AR | ||
| CDH23 | 605516 | Deafness, autosomal recessive 12 | AR |
| Usher syndrome, type 1D | AR, DR | ||
| Usher syndrome, type 1D/F digenic | AR, DR | ||
| Pituitary adenoma 5, multiple types | AD | ||
| CEP290 | 610142 | Leber congenital amaurosis 10 | - |
| Meckel syndrome 4 | AR | ||
| ?Bardet-Biedl syndrome 14 | AR | ||
| Senior-Loken syndrome 6 | AR | ||
| Joubert syndrome 5 | AR | ||
| CERKL | 608381 | Retinitis pigmentosa 26 | AR |
| CFTR | 602421 | Congenital bilateral absence of vas deferens | AR |
| Pancreatitis, hereditary | AD | ||
| Bronchiectasis with or without elevated sweat chloride 1, modifier of | AD | ||
| Cystic fibrosis | AR | ||
| CHAT | 118490 | Myasthenic syndrome, congenital, 6, presynaptic | AR |
| CHM | 300390 | Choroideremia | XL |
| CHRNE | 100725 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | AR |
| Myasthenic syndrome, congenital, 4A, slow-channel | AD, AR | ||
| Myasthenic syndrome, congenital, 4B, fast-channel | AR | ||
| CLN3 | 607042 | Ceroid lipofuscinosis, neuronal, 3 | AR |
| CLN5 | - | Ceroid lipofuscinosis, neuronal, 5 | AR |
| CLN6 | 606725 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset | AR |
| Ceroid lipofuscinosis, neuronal, 6 | AR | ||
| CLN8 | 607837 | Ceroid lipofuscinosis, neuronal, 8 | AR |
| Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant | AR | ||
| CLRN1 | 606397 | Retinitis pigmentosa 61 | - |
| Usher syndrome, type 3A | AR | ||
| CNGA3 | 600053 | Achromatopsia 2 | AR |
| CNGB3 | 605080 | Achromatopsia 3 | AR |
| COL4A3 | 120070 | Alport syndrome 3, autosomal dominant | AD |
| Hematuria, benign familial | AD | ||
| Alport syndrome 2, autosomal recessive | AR | ||
| COL4A4 | 120131 | Alport syndrome 2, autosomal recessive | AR |
| Hematuria, familial benign | AD | ||
| COL4A5 | 303630 | Alport syndrome 1, X-linked | XLD |
| COL7A1 | 120120 | Epidermolysis bullosa dystrophica, AR | AR |
| Epidermolysis bullosa dystrophica, AD | AD | ||
| Epidermolysis bullosa pruriginosa | AD, AR | ||
| Transient bullous of the newborn | AD, AR | ||
| Epidermolysis bullosa, pretibial | AD, AR | ||
| Toenail dystrophy, isolated | AD | ||
| EBD, Bart type | AD | ||
| EBD inversa | AR | ||
| COLQ | 603033 | Myasthenic syndrome, congenital, 5 | AR |
| CPT1A | 600528 | CPT deficiency, hepatic, type IA | AR |
| CPT2 | 600650 | CPT II deficiency, myopathic, stress-induced | AD, AR |
| CPT II deficiency, infantile | AR | ||
| Encephalopathy, acute, infection-induced, 4, susceptibility to | AD, AR | ||
| CPT II deficiency, lethal neonatal | AR | ||
| CRB1 | 604210 | Leber congenital amaurosis 8 | AR |
| Retinitis pigmentosa-12 | AR | ||
| Pigmented paravenous chorioretinal atrophy | AD | ||
| CRPPA | 614631 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | AR |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | AR | ||
| CTNS | 606272 | Cystinosis, late-onset juvenile or adolescent nephropathic | AR |
| Cystinosis, ocular nonnephropathic | AR | ||
| Cystinosis, nephropathic | AR | ||
| Cystinosis, atypical nephropathic | AR | ||
| CTSD | 116840 | Ceroid lipofuscinosis, neuronal, 10 | AR |
| CTSF | 603539 | Ceroid lipofuscinosis, neuronal, 13, Kufs type | AR |
| CTSK | 601105 | Pycnodysostosis | AR |
| CYP11B1 | 610613 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | AR |
| Aldosteronism, glucocorticoid-remediable | AD | ||
| CYP11B2 | 124080 | Hypoaldosteronism, congenital, due to CMO II deficiency | AR |
| Hypoaldosteronism, congenital, due to CMO I deficiency | AR | ||
| CYP17A1 | 609300 | 17, 20-lyase deficiency, isolated | AR |
| 17-alpha-hydroxylase/17, 20-lyase deficiency | AR | ||
| CYP19A1 | 107910 | Aromatase excess syndrome | AD |
| Aromatase deficiency | - | ||
| CYP1B1 | 601771 | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset | AR |
| Anterior segment dysgenesis 6, multiple subtypes | AR | ||
| CYP21A2 | 613815 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | AR |
| Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency | AR | ||
| CYP27A1 | 606530 | Cerebrotendinous xanthomatosis | AR |
| CYP27B1 | 609506 | Vitamin D-dependent rickets, type I | AR |
| DBT | 248610 | Maple syrup urine disease, type II | AR |
| DCLRE1C | 605988 | Omenn syndrome | AR |
| Severe combined immunodeficiency, Athabascan type | AR | ||
| DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
| DHDDS | 608172 | Developmental delay and seizures with or without movement abnormalities | AD |
| Retinitis pigmentosa 59 | AR | ||
| ?Congenital disorder of glycosylation, type 1bb | AR | ||
| DKC1 | 300126 | Dyskeratosis congenita, X-linked | XLR |
| DLD | 238331 | Dihydrolipoamide dehydrogenase deficiency | AR |
| DMD | 300377 | Cardiomyopathy, dilated, 3B | XL |
| Duchenne muscular dystrophy | XLR | ||
| Becker muscular dystrophy | XLR | ||
| DNAH5 | 603335 | Ciliary dyskinesia, primary, 3, with or without situs inversus | AR |
| DNAI1 | 604366 | Ciliary dyskinesia, primary, 1, with or without situs inversus | AR |
| DNAI2 | 605483 | Ciliary dyskinesia, primary, 9, with or without situs inversus | AR |
| DNAJC5 | 611203 | Ceroid lipofuscinosis, neuronal, 4, Parry type | AD |
| DOK7 | 610285 | Fetal akinesia deformation sequence 3 | AR |
| Myasthenic syndrome, congenital, 10 | AR | ||
| DPYD | 612779 | 5-fluorouracil toxicity | AR |
| Dihydropyrimidine dehydrogenase deficiency | AR | ||
| DYSF | 603009 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | AR |
| Myopathy, distal, with anterior tibial onset | AR | ||
| Miyoshi muscular dystrophy 1 | AR | ||
| EDA | 300451 | Tooth agenesis, selective, X-linked 1 | XLD |
| Ectodermal dysplasia 1, hypohidrotic, X-linked | XLR | ||
| EDAR | 604095 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | AR |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | AD | ||
| [Hair morphology 1, hair thickness] | - | ||
| ELP1 | 603722 | Dysautonomia, familial | AR |
| Medulloblastoma | AD, AR, SM | ||
| EMD | 300384 | Emery-Dreifuss muscular dystrophy 1, X-linked | XLR |
| ERCC2 | 126340 | ?Cerebrooculofacioskeletal syndrome 2 | AR |
| Xeroderma pigmentosum, group D | AR | ||
| Trichothiodystrophy 1, photosensitive | AR | ||
| ETFA | - | Glutaric acidemia IIA | AR |
| ETFB | 130410 | Glutaric acidemia IIB | AR |
| ETFDH | 231675 | Glutaric acidemia IIC | AR |
| ETHE1 | 608451 | Ethylmalonic encephalopathy | AR |
| EXOSC3 | 606489 | Pontocerebellar hypoplasia, type 1B | AR |
| EYS | 612424 | Retinitis pigmentosa 25 | AR |
| F11 | 264900 | Factor XI deficiency, autosomal dominant | - |
| Factor XI deficiency, autosomal recessive | - | ||
| F8 | 300841 | Thrombophilia 13, X-linked, due to factor VIII defect | - |
| Hemophilia A | XLR | ||
| F9 | 300746 | Warfarin sensitivity | XL |
| Thrombophilia, X-linked, due to factor IX defect | XLR | ||
| Hemophilia B | XLR | ||
| Deep venous thrombosis, protection against | XLR | ||
| FAH | 613871 | Tyrosinemia, type I | AR |
| FAM161A | 613596 | Retinitis pigmentosa 28 | - |
| FANCA | 607139 | Fanconi anemia, complementation group A | AR |
| FANCC | 613899 | Fanconi anemia, complementation group C | AR |
| FANCG | 602956 | Fanconi anemia, complementation group G | AR |
| FH | 136850 | Fumarase deficiency | AR |
| Leiomyomatosis and renal cell cancer | AD | ||
| FKRP | 606596 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 | AR | ||
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | AR | ||
| FKTN | 607440 | Cardiomyopathy, dilated, 1X | AR |
| Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 | AR | ||
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | AR | ||
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | AR | ||
| FMR1 | 309550 | Premature ovarian failure 1 | XL |
| Fragile X syndrome | XLD | ||
| Fragile X tremor/ataxia syndrome | XLD | ||
| G6PC1 | 613742 | Glycogen storage disease Ia | AR |
| G6PD | 305900 | Resistance to malaria due to G6PD deficiency | - |
| Hemolytic anemia, G6PD deficient (favism) | XLD | ||
| GAA | 606800 | Glycogen storage disease II | AR |
| GALC | 606890 | Krabbe disease | AR |
| GALE | 606953 | Galactose epimerase deficiency | AR |
| GALK1 | 604313 | Galactokinase deficiency with cataracts | AR |
| GALNT3 | 601756 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | AR |
| GALT | 606999 | Galactosemia | AR |
| GAMT | 601240 | Cerebral creatine deficiency syndrome 2 | AR |
| GBA | 606463 | Lewy body dementia, susceptibility to | AD |
| Gaucher disease, type IIIC | AR | ||
| Parkinson disease, late-onset, susceptibility to | AD, MF | ||
| Gaucher disease, type II | AR | ||
| Gaucher disease, type III | AR | ||
| Gaucher disease, perinatal lethal | AR | ||
| Gaucher disease, type I | AR | ||
| GBE1 | 607839 | Glycogen storage disease IV | AR |
| Polyglucosan body disease, adult form | AR | ||
| GCDH | 608801 | Glutaricaciduria, type I | AR |
| GCSH | 238330 | ?Glycine encephalopathy | AR |
| GDF5 | 601146 | Du Pan syndrome | AR |
| Brachydactyly, type C | AD | ||
| Osteoarthritis-5 | - | ||
| Multiple synostoses syndrome 2 | AD | ||
| Chondrodysplasia, Grebe type | AR | ||
| Brachydactyly, type A1, C | AD, AR | ||
| ?Acromesomelic dysplasia, Hunter-Thompson type | AR | ||
| Brachydactyly, type A2 | AD | ||
| Symphalangism, proximal, 1B | AD | ||
| GFPT1 | 138292 | Myasthenia, congenital, 12, with tubular aggregates | AR |
| GJB1 | 304040 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | XLD |
| GJB2 | 121011 | Keratoderma, palmoplantar, with deafness | AD |
| Keratitis-ichthyosis-deafness syndrome | AD | ||
| Deafness, autosomal dominant 3A | AD | ||
| Hystrix-like ichthyosis with deafness | AD | ||
| Bart-Pumphrey syndrome | AD | ||
| Vohwinkel syndrome | AD | ||
| Deafness, autosomal recessive 1A | AR, DD | ||
| GJB6 | 604418 | Deafness, autosomal recessive 1B | AR |
| Deafness, digenic GJB2/GJB6 | AR, DD | ||
| Ectodermal dysplasia 2, Clouston type | AD | ||
| Deafness, autosomal dominant 3B | AD | ||
| GLA | 300644 | Fabry disease | XL |
| Fabry disease, cardiac variant | XL | ||
| GLB1 | 611458 | GM1-gangliosidosis, type II | AR |
| GM1-gangliosidosis, type I | AR | ||
| Mucopolysaccharidosis type IVB (Morquio) | AR | ||
| GM1-gangliosidosis, type III | AR | ||
| GLDC | 238300 | Glycine encephalopathy | AR |
| GNE | 603824 | Nonaka myopathy | AR |
| Sialuria | AD | ||
| GNPAT | 602744 | Rhizomelic chondrodysplasia punctata, type 2 | AR |
| GNPTAB | 607840 | Mucolipidosis III alpha/beta | AR |
| Mucolipidosis II alpha/beta | AR | ||
| GNPTG | 607838 | Mucolipidosis III gamma | AR |
| GNS | 607664 | Mucopolysaccharidosis type IIID | AR |
| GORAB | 607983 | Geroderma osteodysplasticum | AR |
| GRHPR | 604296 | Hyperoxaluria, primary, type II | AR |
| GRN | 138945 | Ceroid lipofuscinosis, neuronal, 11 | AR |
| Frontotemporal lobar degeneration with ubiquitin-positive inclusions | AD | ||
| Aphasia, primary progressive | AD | ||
| GUCY2D | 600179 | Cone-rod dystrophy 6 | AD, AR |
| Leber congenital amaurosis 1 | AR | ||
| Night blindness, congenital stationary, type 1I | AR | ||
| ?Choroidal dystrophy, central areolar 1 | AD | ||
| HADH | 601609 | 3-hydroxyacyl-CoA dehydrogenase deficiency | AR |
| Hyperinsulinemic hypoglycemia, familial, 4 | AR | ||
| HADHA | 600890 | HELLP syndrome, maternal, of pregnancy | AR |
| LCHAD deficiency | AR | ||
| Fatty liver, acute, of pregnancy | AR | ||
| Mitochondrial trifunctional protein deficiency | AR | ||
| HADHB | 143450 | Trifunctional protein deficiency | AR |
| HAX1 | 605998 | Neutropenia, severe congenital 3, autosomal recessive | AR |
| HBA1 | 141800 | Methemoglobinemia, alpha type | AD |
| Heinz body anemias, alpha- | AD | ||
| Erythrocytosis 7 | AD | ||
| Thalassemias, alpha- | - | ||
| Hemoglobin H disease, nondeletional | - | ||
| HBA2 | 141850 | Thalassemia, alpha- | - |
| Erythrocytosis 7 | AD | ||
| Heinz body anemia | AD | ||
| Hemoglobin H disease, deletional and nondeletional | - | ||
| HBB | 141900 | Erythrocytosis 6 | AD |
| Methemoglobinemia, beta type | AD | ||
| Delta-beta thalassemia | AD | ||
| Thalassemia-beta, dominant inclusion-body | AD | ||
| Sickle cell anemia | AR | ||
| Hereditary persistence of fetal hemoglobin | AD | ||
| Malaria, resistance to | - | ||
| Thalassemia, beta | - | ||
| Heinz body anemia | AD | ||
| HEPACAM | 611642 | Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation | AD |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A | AR | ||
| HEXA | 606869 | Tay-Sachs disease | AR |
| [Hex A pseudodeficiency] | AR | ||
| GM2-gangliosidosis, several forms | AR | ||
| HEXB | 606873 | Sandhoff disease, infantile, juvenile, and adult forms | AR |
| HGD | 607474 | Alkaptonuria | AR |
| HGSNAT | 610453 | Mucopolysaccharidosis type IIIC (Sanfilippo C) | AR |
| Retinitis pigmentosa 73 | AR | ||
| HJV | 608374 | Hemochromatosis, type 2A | AR |
| HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
| HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
| HOGA1 | 613597 | Hyperoxaluria, primary, type III | AR |
| HPRT1 | 308000 | Hyperuricemia, HRPT-related | XLR |
| Lesch-Nyhan syndrome | XLR | ||
| HPS1 | 604982 | Hermansky-Pudlak syndrome 1 | AR |
| HPS3 | 606118 | Hermansky-Pudlak syndrome 3 | AR |
| HPS4 | 606682 | Hermansky-Pudlak syndrome 4 | AR |
| HPS5 | 607521 | Hermansky-Pudlak syndrome 5 | AR |
| HPS6 | 607522 | Hermansky-Pudlak syndrome 6 | AR |
| HSD17B3 | 605573 | Pseudohermaphroditism, male, with gynecomastia | AR |
| HSD17B4 | 601860 | Perrault syndrome 1 | AR |
| D-bifunctional protein deficiency | AR | ||
| HSD3B2 | 613890 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR |
| IDS | 300823 | Mucopolysaccharidosis II | XLR |
| IDUA | 252800 | Mucopolysaccharidosis Is | AR |
| Mucopolysaccharidosis Ih/s | AR | ||
| Mucopolysaccharidosis Ih | AR | ||
| IL2RG | 308380 | Severe combined immunodeficiency, X-linked | XLR |
| Combined immunodeficiency, X-linked, moderate | XLR | ||
| IVD | 607036 | Isovaleric acidemia | AR |
| KCNJ11 | 600937 | Maturity-onset diabetes of the young, type 13 | AD |
| Diabetes mellitus, transient neonatal 3 | AD | ||
| Hyperinsulinemic hypoglycemia, familial, 2 | AD, AR | ||
| Diabetes, permanent neonatal 2, with or without neurologic features | AD | ||
| Diabetes mellitus, type 2, susceptibility to | AD | ||
| KCTD7 | 611725 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | AR |
| L1CAM | 308840 | Hydrocephalus with congenital idiopathic intestinal pseudoobstruction | XLR |
| CRASH syndrome | XLR | ||
| Corpus callosum, partial agenesis of | XLR | ||
| Hydrocephalus with Hirschsprung disease | XLR | ||
| MASA syndrome | XLR | ||
| Hydrocephalus due to aqueductal stenosis | XLR | ||
| LAMA3 | 600805 | Laryngoonychocutaneous syndrome | AR |
| Epidermolysis bullosa, junctional, Herlitz type | AR | ||
| Epidermolysis bullosa, junctional 2B, severe | - | ||
| Epidermolysis bullosa, generalized atrophic benign | AR | ||
| Epidermolysis bullosa, junctional 2A, intermediate | - | ||
| LAMB3 | 150310 | Epidermolysis bullosa, junctional, non-Herlitz type | AR |
| Amelogenesis imperfecta, type IA | AD | ||
| Epidermolysis bullosa, junctional, Herlitz type | AR | ||
| LAMC2 | 150292 | Epidermolysis bullosa, junctional, non-Herlitz type | AR |
| Epidermolysis bullosa, junctional, Herlitz type | AR | ||
| Epidermolysis bullosa, junctional 3B, severe | - | ||
| Epidermolysis bullosa, junctional 3A, intermediate | - | ||
| LARGE1 | 603590 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 | AR | ||
| LCA5 | 611408 | Leber congenital amaurosis 5 | AR |
| LHCGR | 152790 | Leydig cell hypoplasia with pseudohermaphroditism | AR |
| Leydig cell adenoma, somatic, with precocious puberty | - | ||
| Precocious puberty, male | AD | ||
| Leydig cell hypoplasia with hypergonadotropic hypogonadism | AR | ||
| Luteinizing hormone resistance, female | AR | ||
| LIFR | 151443 | Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome | AR |
| LIPA | 613497 | Wolman disease | AR |
| Cholesteryl ester storage disease | AR | ||
| LIPH | 607365 | Woolly hair, autosomal recessive 2 with or without hypotrichosis | AR |
| Hypotrichosis 7 | AR | ||
| LOXHD1 | 613072 | Deafness, autosomal recessive 77 | AR |
| LPL | 609708 | [High density lipoprotein cholesterol level QTL 11] | AR |
| Combined hyperlipidemia, familial | AD | ||
| Lipoprotein lipase deficiency | AR | ||
| LRPPRC | 607544 | Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) | AR |
| LYST | 606897 | Chediak-Higashi syndrome | AR |
| MAN2B1 | 609458 | Mannosidosis, alpha-, types I and II | AR |
| MCCC1 | 609010 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
| MCCC2 | 609014 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | AR |
| MCOLN1 | 605248 | Mucolipidosis IV | AR |
| MED17 | 603810 | Microcephaly, postnatal progressive, with seizures and brain atrophy | AR |
| MEFV | - | Neutrophilic dermatosis, acute febrile | AD |
| Familial Mediterranean fever, AR | AR | ||
| Familial Mediterranean fever, AD | AD | ||
| MFSD8 | 611124 | Ceroid lipofuscinosis, neuronal, 7 | AR |
| Macular dystrophy with central cone involvement | AR | ||
| MKKS | 604896 | McKusick-Kaufman syndrome | AR |
| Bardet-Biedl syndrome 6 | AR | ||
| MKS1 | 609883 | Bardet-Biedl syndrome 13 | AR |
| Joubert syndrome 28 | AR | ||
| Meckel syndrome 1 | AR | ||
| MLC1 | 605908 | Megalencephalic leukoencephalopathy with subcortical cysts | AR |
| MMAA | 607481 | Methylmalonic aciduria, vitamin B12-responsive | AR |
| MMAB | 607568 | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type | AR |
| MMADHC | 611935 | Methylmalonic aciduria and homocystinuria, cblD type | AR |
| Methylmalonic aciduria, cblD type, variant 2 | AR | ||
| Homocystinuria, cblD type, variant 1 | AR | ||
| MMUT | 609058 | Methylmalonic aciduria, mut(0) type | AR |
| MPI | 154550 | Congenital disorder of glycosylation, type Ib | AR |
| MPL | 159530 | Myelofibrosis with myeloid metaplasia, somatic | - |
| Thrombocytopenia, congenital amegakaryocytic | AR | ||
| Thrombocythemia 2 | AD, SM | ||
| MPV17 | 137960 | Charcot-Marie-Tooth disease, axonal, type 2EE | AR |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | AR | ||
| MRE11 | 600814 | Ataxia-telangiectasia-like disorder 1 | AR |
| MTHFR | 607093 | Neural tube defects, susceptibility to | AR |
| Homocystinuria due to MTHFR deficiency | AR | ||
| Schizophrenia, susceptibility to | AD | ||
| Thromboembolism, susceptibility to | AD | ||
| MTM1 | 300415 | Myotubular myopathy, X-linked | XLR |
| MTTP | 157147 | Metabolic syndrome, protection against | AD |
| Abetalipoproteinemia | AR | ||
| MYO7A | 276903 | Deafness, autosomal dominant 11 | AD |
| Usher syndrome, type 1B | AR | ||
| Deafness, autosomal recessive 2 | AR | ||
| NAGLU | 609701 | ?Charcot-Marie-Tooth disease, axonal, type 2V | AD |
| Mucopolysaccharidosis type IIIB (Sanfilippo B) | AR | ||
| NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
| NBN | 602667 | Aplastic anemia | - |
| Leukemia, acute lymphoblastic | - | ||
| Nijmegen breakage syndrome | AR | ||
| NDUFAF6 | 612392 | Mitochondrial complex I deficiency, nuclear type 17 | AR |
| Fanconi renotubular syndrome 5 | AR | ||
| NEB | 161650 | Nemaline myopathy 2, autosomal recessive | AR |
| Arthrogryposis multiplex congenita 6 | AR | ||
| NPC1 | 607623 | Niemann-Pick disease, type C1 | AR |
| Niemann-Pick disease, type D | AR | ||
| NPC2 | 601015 | Niemann-pick disease, type C2 | AR |
| NPHS1 | 602716 | Nephrotic syndrome, type 1 | AR |
| NPHS2 | 604766 | Nephrotic syndrome, type 2 | AR |
| NTRK1 | 191315 | Insensitivity to pain, congenital, with anhidrosis | AR |
| OPA3 | 606580 | 3-methylglutaconic aciduria, type III | AR |
| Optic atrophy 3 with cataract | AD | ||
| OTC | 300461 | Ornithine transcarbamylase deficiency | XL |
| PAH | 612349 | Phenylketonuria | AR |
| [Hyperphenylalaninemia, non-PKU mild] | AR | ||
| PCCA | 232000 | Propionicacidemia | AR |
| PCCB | 232050 | Propionicacidemia | AR |
| PCDH15 | 605514 | Usher syndrome, type 1D/F digenic | AR, DR |
| Deafness, autosomal recessive 23 | AR | ||
| Usher syndrome, type 1F | AR | ||
| PDHA1 | - | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
| PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | AR |
| PEPD | 613230 | Prolidase deficiency | AR |
| PET100 | 614770 | Mitochondrial complex IV deficiency, nuclear type 12 | AR |
| PEX1 | 602136 | Peroxisome biogenesis disorder 1A (Zellweger) | AR |
| Peroxisome biogenesis disorder 1B (NALD/IRD) | AR | ||
| Heimler syndrome 1 | AR | ||
| PEX10 | 602859 | Peroxisome biogenesis disorder 6A (Zellweger) | AR |
| Peroxisome biogenesis disorder 6B | AR | ||
| PEX12 | 601758 | Peroxisome biogenesis disorder 3B | AR |
| Peroxisome biogenesis disorder 3A (Zellweger) | AR | ||
| PEX2 | 170993 | Peroxisome biogenesis disorder 5B | AR |
| Peroxisome biogenesis disorder 5A (Zellweger) | AR | ||
| PEX26 | 608666 | Peroxisome biogenesis disorder 7A (Zellweger) | AR |
| Peroxisome biogenesis disorder 7B | AR | ||
| PEX6 | - | Peroxisome biogenesis disorder 4B | AD, AR |
| Peroxisome biogenesis disorder 4A (Zellweger) | AR | ||
| Heimler syndrome 2 | AR | ||
| PEX7 | 601757 | Peroxisome biogenesis disorder 9B | AR |
| Rhizomelic chondrodysplasia punctata, type 1 | AR | ||
| PFKM | 610681 | Glycogen storage disease VII | AR |
| PHGDH | 606879 | Phosphoglycerate dehydrogenase deficiency | AR |
| Neu-Laxova syndrome 1 | AR | ||
| PKHD1 | 606702 | Polycystic kidney disease 4, with or without hepatic disease | AR |
| PMM2 | 601785 | Congenital disorder of glycosylation, type Ia | AR |
| POLG | 174763 | Progressive external ophthalmoplegia, autosomal recessive 1 | AR |
| Progressive external ophthalmoplegia, autosomal dominant 1 | AD | ||
| Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) | AR | ||
| Mitochondrial DNA depletion syndrome 4B (MNGIE type) | AR | ||
| Mitochondrial DNA depletion syndrome 4A (Alpers type) | AR | ||
| POMGNT1 | 606822 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | AR | ||
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | AR | ||
| Retinitis pigmentosa 76 | AR | ||
| POMT1 | 607423 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | AR | ||
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 | AR | ||
| POMT2 | 607439 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 | AR |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | AR | ||
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | AR | ||
| PPT1 | 600722 | Ceroid lipofuscinosis, neuronal, 1 | AR |
| PRPS1 | 311850 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | XLR |
| Deafness, X-linked 1 | XL | ||
| Phosphoribosylpyrophosphate synthetase superactivity | XLR | ||
| Arts syndrome | XLR | ||
| Gout, PRPS-related | XLR | ||
| PSAP | 176801 | Combined SAP deficiency | AR |
| Gaucher disease, atypical | - | ||
| Krabbe disease, atypical | AR | ||
| Parkinson disease 24, autosomal dominant, susceptibility to | AD | ||
| Metachromatic leukodystrophy due to SAP-b deficiency | AR | ||
| PUS1 | - | Myopathy, lactic acidosis, and sideroblastic anemia 1 | AR |
| PYGL | 613741 | Glycogen storage disease VI | AR |
| PYGM | 608455 | McArdle disease | AR |
| RAB23 | 606144 | Carpenter syndrome | AR |
| RAG1 | 179615 | Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity | - |
| Omenn syndrome | AR | ||
| Severe combined immunodeficiency, B cell-negative | AR | ||
| Combined cellular and humoral immune defects with granulomas | AR | ||
| RAG2 | 179616 | Omenn syndrome | AR |
| Combined cellular and humoral immune defects with granulomas | AR | ||
| Severe combined immunodeficiency, B cell-negative | AR | ||
| RAPSN | 601592 | Fetal akinesia deformation sequence 2 | AR |
| Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | AR | ||
| RARS2 | 611524 | Pontocerebellar hypoplasia, type 6 | AR |
| RDH12 | 608830 | Leber congenital amaurosis 13 | AD, AR |
| RNASEH2A | 606034 | Aicardi-Goutieres syndrome 4 | AR |
| RNASEH2B | 610326 | Aicardi-Goutieres syndrome 2 | AR |
| RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
| RPE65 | 180069 | Leber congenital amaurosis 2 | AR |
| Retinitis pigmentosa 20 | AR | ||
| Retinitis pigmentosa 87 with choroidal involvement | AD | ||
| RS1 | 300839 | Retinoschisis | XLR |
| RTEL1 | 608833 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 | AD |
| Dyskeratosis congenita, autosomal dominant 4 | AD, AR | ||
| Dyskeratosis congenita, autosomal recessive 5 | AD, AR | ||
| SACS | 604490 | Spastic ataxia, Charlevoix-Saguenay type | AR |
| SAMD9 | 610456 | Monosomy 7 myelodysplasia and leukemia syndrome 2 | AD |
| MIRAGE syndrome | AD | ||
| Tumoral calcinosis, familial, normophosphatemic | AR | ||
| SAMHD1 | 606754 | ?Chilblain lupus 2 | AD |
| Aicardi-Goutieres syndrome 5 | AR | ||
| SBDS | 607444 | Aplastic anemia, susceptibility to | - |
| Shwachman-Diamond syndrome | AR | ||
| SEPSECS | 613009 | Pontocerebellar hypoplasia type 2D | AR |
| SERPINA1 | 107400 | Hemorrhagic diathesis due to antithrombin Pittsburgh | AR |
| Emphysema-cirrhosis, due to AAT deficiency | AR | ||
| Emphysema due to AAT deficiency | AR | ||
| SGCA | 600119 | Muscular dystrophy, limb-girdle, autosomal recessive 3 | AR |
| SGCB | 600900 | Muscular dystrophy, limb-girdle, autosomal recessive 4 | AR |
| SGCG | 608896 | Muscular dystrophy, limb-girdle, autosomal recessive 5 | AR |
| SGSH | 605270 | Mucopolysaccharidosis type IIIA (Sanfilippo A) | AR |
| SLC12A3 | 600968 | Gitelman syndrome | AR |
| SLC12A6 | 604878 | Agenesis of the corpus callosum with peripheral neuropathy | AR |
| Charcot-Marie-Tooth disease, axonal, type 2II | - | ||
| SLC17A5 | 604322 | Sialic acid storage disorder, infantile | AR |
| Salla disease | AR | ||
| SLC22A5 | 603377 | Carnitine deficiency, systemic primary | AR |
| SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
| SLC26A2 | 606718 | Diastrophic dysplasia, broad bone-platyspondylic variant | AR |
| Achondrogenesis Ib | AR | ||
| Epiphyseal dysplasia, multiple, 4 | AR | ||
| De la Chapelle dysplasia | AR | ||
| Diastrophic dysplasia | AR | ||
| Atelosteogenesis, type II | AR | ||
| SLC26A4 | 605646 | Pendred syndrome | AR |
| Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | AR | ||
| SLC35A3 | 605632 | ?Arthrogryposis, mental retardation, and seizures | AR |
| SLC39A4 | 607059 | Acrodermatitis enteropathica | AR |
| SLC4A11 | 610206 | Corneal endothelial dystrophy, autosomal recessive | AR |
| Corneal dystrophy, Fuchs endothelial, 4 | - | ||
| Corneal endothelial dystrophy and perceptive deafness | AR | ||
| SLC6A8 | 300036 | Cerebral creatine deficiency syndrome 1 | XLR |
| SMN1 | 600354 | Spinal muscular atrophy-3 | AR |
| Spinal muscular atrophy-1 | AR | ||
| Spinal muscular atrophy-2 | AR | ||
| Spinal muscular atrophy-4 | AR | ||
| SMPD1 | 607608 | Niemann-Pick disease, type A | AR |
| Niemann-Pick disease, type B | AR | ||
| ST3GAL5 | 604402 | Salt and pepper developmental regression syndrome | AR |
| STAR | 600617 | Lipoid adrenal hyperplasia | AR |
| STS | 300747 | Ichthyosis, X-linked | XLR |
| SUMF1 | 607939 | Multiple sulfatase deficiency | AR |
| TAT | 613018 | Tyrosinemia, type II | AR |
| TCIRG1 | 604592 | Osteopetrosis, autosomal recessive 1 | AR |
| TECPR2 | 615000 | Spastic paraplegia 49, autosomal recessive | AR |
| TFR2 | 604720 | Hemochromatosis, type 3 | AR |
| TGM1 | 190195 | Ichthyosis, congenital, autosomal recessive 1 | AR |
| TH | 191290 | Segawa syndrome, recessive | AR |
| TMEM216 | 613277 | Meckel syndrome 2 | AR |
| Joubert syndrome 2 | AR | ||
| TPP1 | 607998 | Ceroid lipofuscinosis, neuronal, 2 | AR |
| Spinocerebellar ataxia, autosomal recessive 7 | AR | ||
| TREX1 | 606609 | Aicardi-Goutieres syndrome 1, dominant and recessive | AD, AR |
| Chilblain lupus | AD | ||
| Vasculopathy, retinal, with cerebral leukodystrophy | AD | ||
| Systemic lupus erythematosus, susceptibility to | AD | ||
| TRIM37 | 605073 | Mulibrey nanism | AR |
| TSEN2 | 608753 | Pontocerebellar hypoplasia type 2B | AR |
| TSEN34 | 608754 | ?Pontocerebellar hypoplasia type 2C | AR |
| TSEN54 | 608755 | Pontocerebellar hypoplasia type 2A | AR |
| ?Pontocerebellar hypoplasia type 5 | AR | ||
| Pontocerebellar hypoplasia type 4 | AR | ||
| TTC8 | - | Bardet-Biedl syndrome 8 | AR |
| ?Retinitis pigmentosa 51 | AR | ||
| TTN | 188840 | Cardiomyopathy, dilated, 1G | - |
| Muscular dystrophy, limb-girdle, autosomal recessive 10 | AR | ||
| Tibial muscular dystrophy, tardive | AD | ||
| Myopathy, myofibrillar, 9, with early respiratory failure | AD | ||
| Salih myopathy | AR | ||
| Cardiomyopathy, familial hypertrophic, 9 | AD | ||
| TTPA | 600415 | Ataxia with isolated vitamin E deficiency | AR |
| UBR1 | 605981 | Johanson-Blizzard syndrome | AR |
| UGT1A1 | 191740 | [Gilbert syndrome] | AR |
| Crigler-Najjar syndrome, type II | AR | ||
| Crigler-Najjar syndrome, type I | AR | ||
| Hyperbilirubinemia, familial transient neonatal | AD, AR | ||
| [Bilirubin, serum level of, QTL1] | - | ||
| USH1C | 605242 | Usher syndrome, type 1C | AR |
| Deafness, autosomal recessive 18A | AR | ||
| USH2A | 608400 | Usher syndrome, type 2A | AR |
| Retinitis pigmentosa 39 | - | ||
| VPS13A | 605978 | Choreoacanthocytosis | AR |
| VPS53 | 615850 | Pontocerebellar hypoplasia, type 2E | AR |
| VRK1 | 602168 | Pontocerebellar hypoplasia type 1A | AR |
| XPA | 611153 | Xeroderma pigmentosum, group A | AR |
| XPC | 613208 | Xeroderma pigmentosum, group C | AR |
| ZFYVE26 | 612012 | Spastic paraplegia 15, autosomal recessive | AR |
COMMON SYNDROMES AND DISORDERS COVERED
- Alport disease
- Bardet-Biedl syndromes
- Congenital adrenal hyperplasia
- Cystic fibrosis
- Fragile X syndrome
- Glycine encephalopathy
- Maple syrup urine disease
- Mucolipidosis, several types
- Mucopolysaccharidosis, several types
- Niemann-Pick disease
- Spinal muscular atrophy
- Organic acidemias
- Wilson disease
Fertility panel
Our Fertility panel is recommended for couples trying to conceive for one year or longer, who have experienced more than one miscarriage, with irregular or absent menstruation, with low sperm count, form, or movement, or with absence of development of secondary sexual features. Knowing the exact cause of infertility allows for better clinical management and enables enhanced counseling and personalized reproductive care plan for couples. This NGS-only panel option does not include sex chromosome aneuploidy, Y chromosome microdeletions and FMR1-related Premature ovarian failure syndrome testing. For a more comprehensive analysis, please refer to our Fertility X and Fertility Y panels.
| No. of genes: | 276 |
|---|---|
| TAT: | 25 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| AKR1C4 | 600451 | 46XY sex reversal 8, modifier of | AR |
| AMH | 600957 | Persistent Mullerian duct syndrome, type I | AR |
| AMHR2 | 600956 | Persistent Mullerian duct syndrome, type II | AR |
| ANOS1 | 300836 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) | XLR |
| AR | 313700 | Androgen insensitivity | XLR |
| Androgen insensitivity, partial, with or without breast cancer | XLR | ||
| Prostate cancer, susceptibility to | AD, SM | ||
| Spinal and bulbar muscular atrophy of Kennedy | XLR | ||
| Hypospadias 1, X-linked | XLR | ||
| ARL13B | 608922 | Joubert syndrome 8 | AR |
| ARL6 | 608845 | Retinitis pigmentosa 55 | AR |
| Bardet-Biedl syndrome 1, modifier of | AR, DR | ||
| Bardet-Biedl syndrome 3 | AR | ||
| ARX | 300382 | Developmental and epileptic encephalopathy 1 | XLR |
| Mental retardation, X-linked 29 and others | XLR | ||
| Hydranencephaly with abnormal genitalia | XL | ||
| Partington syndrome | XLR | ||
| Lissencephaly, X-linked 2 | XL | ||
| Proud syndrome | XL | ||
| ATP6V0A4 | 605239 | Distal renal tubular acidosis 3, with or without sensorineural hearing loss | AR |
| ATRX | 300032 | Mental retardation-hypotonic facies syndrome, X-linked | XLR |
| Alpha-thalassemia/mental retardation syndrome | XLD | ||
| Alpha-thalassemia myelodysplasia syndrome, somatic | - | ||
| AURKC | 603495 | Spermatogenic failure 5 | AR |
| B3GLCT | 610308 | Peters-plus syndrome | AR |
| BBS1 | 209901 | Bardet-Biedl syndrome 1 | AR, DR |
| BBS10 | 610148 | Bardet-Biedl syndrome 10 | AR |
| BBS12 | 610683 | Bardet-Biedl syndrome 12 | AR |
| BBS2 | 606151 | Bardet-Biedl syndrome 2 | AR |
| Retinitis pigmentosa 74 | AR | ||
| BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
| BBS5 | 603650 | Bardet-Biedl syndrome 5 | AR |
| BBS7 | 607590 | Bardet-Biedl syndrome 7 | AR |
| BBS9 | 607968 | Bardet-Biedl syndrome 9 | AR |
| BCOR | - | Microphthalmia, syndromic 2 | XLD |
| BMP15 | 300247 | Premature ovarian failure 4 | XL |
| Ovarian dysgenesis 2 | XL | ||
| BMP4 | 112262 | Microphthalmia, syndromic 6 | AD |
| Orofacial cleft 11 | - | ||
| BNC2 | 608669 | Lower urinary tract obstruction, congenital | AD |
| CATSPER1 | 606389 | Spermatogenic failure 7 | AR |
| CC2D2A | 612013 | Meckel syndrome 6 | AR |
| Retinitis pigmentosa 93 | AR | ||
| Joubert syndrome 9 | AR | ||
| COACH syndrome 2 | AR | ||
| CCDC103 | 614677 | Ciliary dyskinesia, primary, 17 | AR |
| CCDC28B | 610162 | Bardet-Biedl syndrome 1, modifier of | AR, DR |
| CCDC39 | 613798 | Ciliary dyskinesia, primary, 14 | AR |
| CCDC40 | 613799 | Ciliary dyskinesia, primary, 15 | AR |
| CDKN1C | 600856 | IMAGE syndrome | AD |
| Beckwith-Wiedemann syndrome | AD | ||
| CEP164 | 614848 | Nephronophthisis 15 | AR |
| CEP290 | 610142 | Leber congenital amaurosis 10 | - |
| Meckel syndrome 4 | AR | ||
| ?Bardet-Biedl syndrome 14 | AR | ||
| Senior-Loken syndrome 6 | AR | ||
| Joubert syndrome 5 | AR | ||
| CEP41 | 610523 | Joubert syndrome 15 | AR |
| CFAP298 | 615494 | Ciliary dyskinesia, primary, 26 | AR |
| CFAP300 | 618058 | Ciliary dyskinesia, primary, 38 | AR |
| CFAP418 | 614477 | Retinitis pigmentosa 64 | AR |
| Cone-rod dystrophy 16 | AR | ||
| Bardet-Biedl syndrome 21 | AR | ||
| CFTR | 602421 | Congenital bilateral absence of vas deferens | AR |
| Pancreatitis, hereditary | AD | ||
| Bronchiectasis with or without elevated sweat chloride 1, modifier of | AD | ||
| Cystic fibrosis | AR | ||
| CHD4 | 603277 | Sifrim-Hitz-Weiss syndrome | AD |
| CHD7 | 608892 | CHARGE syndrome | AD |
| Hypogonadotropic hypogonadism 5 with or without anosmia | AD | ||
| CREBBP | 600140 | Menke-Hennekam syndrome 1 | AD |
| Rubinstein-Taybi syndrome 1 | AD | ||
| CUL4B | 300304 | Mental retardation, X-linked, syndromic 15 (Cabezas type) | XLR |
| CUL7 | 609577 | 3-M syndrome 1 | AR |
| CYB5A | 613218 | Methemoglobinemia and ambiguous genitalia | AR |
| CYP11A1 | 118485 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete | - |
| CYP11B1 | 610613 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | AR |
| Aldosteronism, glucocorticoid-remediable | AD | ||
| CYP17A1 | 609300 | 17, 20-lyase deficiency, isolated | AR |
| 17-alpha-hydroxylase/17, 20-lyase deficiency | AR | ||
| CYP19A1 | 107910 | Aromatase excess syndrome | AD |
| Aromatase deficiency | - | ||
| CYP21A2 | 613815 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | AR |
| Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency | AR | ||
| DHCR24 | 606418 | Desmosterolosis | AR |
| DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
| DHH | 605423 | 46XY gonadal dysgenesis with minifascicular neuropathy | AR |
| 46XY sex reversal 7 | AR | ||
| DNAAF1 | 613190 | Ciliary dyskinesia, primary, 13 | AR |
| DNAAF11 | 614930 | Ciliary dyskinesia, primary, 19 | AR |
| DNAAF2 | 612517 | Ciliary dyskinesia, primary, 10 | AR |
| DNAAF3 | 614566 | Ciliary dyskinesia, primary, 2 | AR |
| DNAAF4 | 608706 | Dyslexia, susceptibility to, 1 | AD |
| Ciliary dyskinesia, primary, 25 | AR | ||
| DNAAF5 | 614864 | Ciliary dyskinesia, primary, 18 | AR |
| DNAAF6 | 300933 | Ciliary dyskinesia, primary, 36, X-linked | XLR |
| DNAH11 | 603339 | Ciliary dyskinesia, primary, 7, with or without situs inversus | AR |
| DNAH5 | 603335 | Ciliary dyskinesia, primary, 3, with or without situs inversus | AR |
| DNAH9 | 603330 | Ciliary dyskinesia, primary, 40 | AR |
| DNAI1 | 604366 | Ciliary dyskinesia, primary, 1, with or without situs inversus | AR |
| DNAI2 | 605483 | Ciliary dyskinesia, primary, 9, with or without situs inversus | AR |
| DNAL1 | 610062 | Ciliary dyskinesia, primary, 16 | AR |
| DUSP6 | 602748 | Hypogonadotropic hypogonadism 19 with or without anosmia | AD |
| DYNC2H1 | 603297 | Short-rib thoracic dysplasia 3 with or without polydactyly | AR, DR |
| DYNC2I1 | 615462 | Short-rib thoracic dysplasia 8 with or without polydactyly | AR |
| EFNB1 | 300035 | Craniofrontonasal dysplasia | XLD |
| ENPP1 | 173335 | Arterial calcification, generalized, of infancy, 1 | AR |
| Obesity, susceptibility to | AD, AR, MF | ||
| Hypophosphatemic rickets, autosomal recessive, 2 | AR | ||
| Cole disease | AD | ||
| Diabetes mellitus, non-insulin-dependent, susceptibility to | AD | ||
| EPG5 | 615068 | Vici syndrome | AR |
| ERAL1 | 607435 | Perrault syndrome 6 | AR |
| ESCO2 | 609353 | Roberts syndrome | AR |
| Juberg-Hayward syndrome | AR | ||
| SC phocomelia syndrome | AR | ||
| EVC | 604831 | Ellis-van Creveld syndrome | AR |
| ?Weyers acrofacial dysostosis | AD | ||
| EVC2 | 607261 | Ellis-van Creveld syndrome | AR |
| Weyers acrofacial dysostosis | AD | ||
| FAT4 | 612411 | Hennekam lymphangiectasia-lymphedema syndrome 2 | AR |
| Van Maldergem syndrome 2 | AR | ||
| FBXL4 | 605654 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | AR |
| FEZF1 | 613301 | Hypogonadotropic hypogonadism 22, with or without anosmia | AR |
| FGF10 | 602115 | Aplasia of lacrimal and salivary glands | AD |
| LADD syndrome | AD | ||
| FGF17 | 603725 | Hypogonadotropic hypogonadism 20 with or without anosmia | AD |
| FGF8 | 600483 | Hypogonadotropic hypogonadism 6 with or without anosmia | AD |
| FGFR1 | 136350 | Osteoglophonic dysplasia | AD |
| Trigonocephaly 1 | AD | ||
| Pfeiffer syndrome | AD | ||
| Encephalocraniocutaneous lipomatosis, somatic mosaic | - | ||
| Hypogonadotropic hypogonadism 2 with or without anosmia | AD | ||
| Jackson-Weiss syndrome | AD | ||
| Hartsfield syndrome | AD | ||
| FGFR2 | 176943 | Crouzon syndrome | AD |
| Saethre-Chotzen syndrome | AD | ||
| Craniofacial-skeletal-dermatologic dysplasia | AD | ||
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | AD | ||
| Gastric cancer, somatic | - | ||
| LADD syndrome | AD | ||
| Beare-Stevenson cutis gyrata syndrome | AD | ||
| Scaphocephaly, maxillary retrusion, and mental retardation | - | ||
| Apert syndrome | AD | ||
| Bent bone dysplasia syndrome | AD | ||
| Pfeiffer syndrome | AD | ||
| Jackson-Weiss syndrome | AD | ||
| FGFR3 | 134934 | Achondroplasia | AD |
| CATSHL syndrome | AD, AR | ||
| Thanatophoric dysplasia, type I | AD | ||
| Bladder cancer, somatic | - | ||
| Hypochondroplasia | AD | ||
| SADDAN | AD | ||
| Colorectal cancer, somatic | - | ||
| Crouzon syndrome with acanthosis nigricans | AD | ||
| Cervical cancer, somatic | - | ||
| Nevus, epidermal, somatic | - | ||
| Thanatophoric dysplasia, type II | AD | ||
| Spermatocytic seminoma, somatic | - | ||
| Muenke syndrome | AD | ||
| LADD syndrome | AD | ||
| FIG4 | 609390 | Amyotrophic lateral sclerosis 11 | AD |
| Yunis-Varon syndrome | AR | ||
| Charcot-Marie-Tooth disease, type 4J | AR | ||
| ?Polymicrogyria, bilateral temporooccipital | AR | ||
| FLNA | 300017 | Frontometaphyseal dysplasia 1 | XLR |
| Heterotopia, periventricular, 1 | XLD | ||
| Terminal osseous dysplasia | XLD | ||
| Congenital short bowel syndrome | XLR | ||
| Otopalatodigital syndrome, type II | XLD | ||
| Melnick-Needles syndrome | XLD | ||
| Cardiac valvular dysplasia, X-linked | XL | ||
| Intestinal pseudoobstruction, neuronal | XLR | ||
| ?FG syndrome 2 | XL | ||
| Otopalatodigital syndrome, type I | XLD | ||
| FLRT3 | 604808 | Hypogonadotropic hypogonadism 21 with anosmia | AD |
| FMR1 | 309550 | Premature ovarian failure 1 | XL |
| Fragile X syndrome | XLD | ||
| Fragile X tremor/ataxia syndrome | XLD | ||
| FOXJ1 | 602291 | Ciliary dyskinesia, primary, 43 | AD |
| FOXL2 | 605597 | Blepharophimosis, epicanthus inversus, and ptosis, type 1 | AD, AR |
| Blepharophimosis, epicanthus inversus, and ptosis, type 2 | AD, AR | ||
| Premature ovarian failure 3 | AD | ||
| FRAS1 | 607830 | Fraser syndrome 1 | AR |
| FREM2 | 608945 | Fraser syndrome 2 | AR |
| Cryptophthalmos, unilateral or bilateral, isolated | AR | ||
| FSHB | 136530 | Hypogonadotropic hypogonadism 24 without anosmia | AR |
| FSHR | 136435 | Ovarian dysgenesis 1 | AR |
| Ovarian response to FSH stimulation | AR | ||
| Ovarian hyperstimulation syndrome | AD | ||
| GAS8 | 605178 | Ciliary dyskinesia, primary, 33 | AR |
| GATA4 | 600576 | Atrioventricular septal defect 4 | AD |
| ?Testicular anomalies with or without congenital heart disease | AD | ||
| Ventricular septal defect 1 | AD | ||
| Tetralogy of Fallot | AD | ||
| Atrial septal defect 2 | AD | ||
| GLI3 | 165240 | Pallister-Hall syndrome | AD |
| Polydactyly, preaxial, type IV | AD | ||
| Polydactyly, postaxial, types A1 and B | AD | ||
| Greig cephalopolysyndactyly syndrome | AD | ||
| GNRH1 | 152760 | ?Hypogonadotropic hypogonadism 12 with or without anosmia | AR |
| GNRHR | 138850 | Hypogonadotropic hypogonadism 7 without anosmia | AR |
| GPC3 | 300037 | Simpson-Golabi-Behmel syndrome, type 1 | XLR |
| Wilms tumor, somatic | - | ||
| GRIP1 | 604597 | Fraser syndrome 3 | AR |
| HBA1 | 141800 | Methemoglobinemia, alpha type | AD |
| Heinz body anemias, alpha- | AD | ||
| Erythrocytosis 7 | AD | ||
| Thalassemias, alpha- | - | ||
| Hemoglobin H disease, nondeletional | - | ||
| HCCS | 300056 | Linear skin defects with multiple congenital anomalies 1 | XLD |
| HESX1 | 601802 | Septooptic dysplasia | AD, AR |
| Pituitary hormone deficiency, combined, 5 | AD, AR | ||
| Growth hormone deficiency with pituitary anomalies | AD, AR | ||
| HEXA | 606869 | Tay-Sachs disease | AR |
| [Hex A pseudodeficiency] | AR | ||
| GM2-gangliosidosis, several forms | AR | ||
| HFE | 613609 | Porphyria variegata, susceptibility to | AD |
| Alzheimer disease, susceptibility to | AD | ||
| Hemochromatosis | AR | ||
| [Transferrin serum level QTL2] | - | ||
| Porphyria cutanea tarda, susceptibility to | AD, AR | ||
| Microvascular complications of diabetes 7 | - | ||
| HNF1B | 189907 | Renal cysts and diabetes syndrome | AD |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| Renal cell carcinoma | - | ||
| HOXA13 | 142959 | ?Guttmacher syndrome | AD |
| Hand-foot-uterus syndrome | AD | ||
| HS6ST1 | 604846 | Hypogonadotropic hypogonadism 15 with or without anosmia | AD |
| HSD17B3 | 605573 | Pseudohermaphroditism, male, with gynecomastia | AR |
| HSD17B4 | 601860 | Perrault syndrome 1 | AR |
| D-bifunctional protein deficiency | AR | ||
| HSD3B2 | 613890 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR |
| HUWE1 | 300697 | Mental retardation, X-linked syndromic, Turner type | XL |
| IFT172 | 607386 | Retinitis pigmentosa 71 | AR |
| Bardet-Biedl syndrome 20 | AR | ||
| Short-rib thoracic dysplasia 10 with or without polydactyly | AR | ||
| IFT27 | 615870 | ?Bardet-Biedl syndrome 19 | AR |
| IL17RD | 606807 | Hypogonadotropic hypogonadism 18 with or without anosmia | AD, AR, DD |
| INPP5E | 613037 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
| Joubert syndrome 1 | AR | ||
| INSL3 | 146738 | Cryptorchidism | AD |
| IRF6 | 607199 | Orofacial cleft 6 | AD |
| van der Woude syndrome | AD | ||
| Popliteal pterygium syndrome 1 | AD | ||
| KHDC3L | 611687 | Hydatidiform mole, recurrent, 2 | AR |
| KIF7 | 611254 | Joubert syndrome 12 | AR |
| ?Hydrolethalus syndrome 2 | AR | ||
| ?Al-Gazali-Bakalinova syndrome | AR | ||
| Acrocallosal syndrome | AR | ||
| KISS1 | 603286 | ?Hypogonadotropic hypogonadism 13 with or without anosmia | AR |
| KISS1R | 604161 | ?Precocious puberty, central, 1 | AD |
| Hypogonadotropic hypogonadism 8 with or without anosmia | AR | ||
| LEP | 164160 | Obesity, morbid, due to leptin deficiency | AR |
| LEPR | 601007 | Obesity, morbid, due to leptin receptor deficiency | AR |
| LHB | 152780 | Hypogonadotropic hypogonadism 23 with or without anosmia | AR |
| LHCGR | 152790 | Leydig cell hypoplasia with pseudohermaphroditism | AR |
| Leydig cell adenoma, somatic, with precocious puberty | - | ||
| Precocious puberty, male | AD | ||
| Leydig cell hypoplasia with hypergonadotropic hypogonadism | AR | ||
| Luteinizing hormone resistance, female | AR | ||
| LHX3 | 600577 | Pituitary hormone deficiency, combined, 3 | AR |
| LHX4 | 602146 | Pituitary hormone deficiency, combined, 4 | AD |
| LMNA | 150330 | Restrictive dermopathy 2 | - |
| Malouf syndrome | AD | ||
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | AR | ||
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | AD | ||
| Hutchinson-Gilford progeria | AD | ||
| Muscular dystrophy, congenital | AD | ||
| Restrictive dermopathy, lethal | AR | ||
| Lipodystrophy, familial partial, type 2 | AD | ||
| Charcot-Marie-Tooth disease, type 2B1 | AR | ||
| Mandibuloacral dysplasia | AR | ||
| Cardiomyopathy, dilated, 1A | AD | ||
| Heart-hand syndrome, Slovenian type | AD | ||
| LRRC56 | 618227 | Ciliary dyskinesia, primary, 39 | AR |
| LZTFL1 | 606568 | Bardet-Biedl syndrome 17 | AR |
| MAMLD1 | 300120 | Hypospadias 2, X-linked | XLR |
| MAP3K1 | 600982 | 46XY sex reversal 6 | AD |
| MCM9 | 610098 | Ovarian dysgenesis 4 | AR |
| MED12 | 300188 | Opitz-Kaveggia syndrome | XLR |
| Lujan-Fryns syndrome | XLR | ||
| Ohdo syndrome, X-linked | XLR | ||
| Hardikar syndrome | XLD | ||
| MID1 | - | Opitz GBBB syndrome, type I | XLR |
| MKKS | 604896 | McKusick-Kaufman syndrome | AR |
| Bardet-Biedl syndrome 6 | AR | ||
| MKS1 | 609883 | Bardet-Biedl syndrome 13 | AR |
| Joubert syndrome 28 | AR | ||
| Meckel syndrome 1 | AR | ||
| MYO7A | 276903 | Deafness, autosomal dominant 11 | AD |
| Usher syndrome, type 1B | AR | ||
| Deafness, autosomal recessive 2 | AR | ||
| MYRF | 608329 | Encephalitis/encephalopathy, mild, with reversible myelin vacuolization | AD |
| Cardiac-urogenital syndrome | AD | ||
| NEK1 | 604588 | Short-rib thoracic dysplasia 6 with or without polydactyly | AR, DR |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | AD | ||
| NEK10 | 618726 | Ciliary dyskinesia, primary, 44 | AR |
| NME8 | 607421 | Ciliary dyskinesia, primary, 6 | AR |
| NPHP1 | 607100 | Joubert syndrome 4 | AR |
| Nephronophthisis 1, juvenile | AR | ||
| Senior-Loken syndrome-1 | AR | ||
| NPHP3 | 608002 | Nephronophthisis 3 | AR |
| Meckel syndrome 7 | AR | ||
| Renal-hepatic-pancreatic dysplasia 1 | AR | ||
| NR0B1 | - | Adrenal hypoplasia, congenital | XLR |
| 46XY sex reversal 2, dosage-sensitive | XL | ||
| NR0B2 | 604630 | Obesity, mild, early-onset | AD, AR, MF |
| NR3C1 | 138040 | Glucocorticoid resistance | AD |
| NR5A1 | 184757 | 46, XX sex reversal 4 | AD |
| Adrenocortical insufficiency | AD | ||
| 46XY sex reversal 3 | AD | ||
| Premature ovarian failure 7 | AD | ||
| Spermatogenic failure 8 | AD | ||
| NSMF | - | Hypogonadotropic hypogonadism 9 with or without anosmia | AD |
| ODAD1 | 615038 | Ciliary dyskinesia, primary, 20 | AR |
| ODAD2 | 615408 | Ciliary dyskinesia, primary, 23 | AR |
| ODAD3 | 615956 | Ciliary dyskinesia, primary, 30 | AR |
| ODAD4 | 617095 | Ciliary dyskinesia, primary, 35 | AR |
| OFD1 | 300170 | Joubert syndrome 10 | XLR |
| Simpson-Golabi-Behmel syndrome, type 2 | XLR | ||
| ?Retinitis pigmentosa 23 | XLR | ||
| Orofaciodigital syndrome I | XLD | ||
| OPHN1 | 300127 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | XLR |
| PANX1 | 608420 | Oocyte maturation defect 7 | AD |
| PATL2 | 614661 | Oocyte maturation defect 4 | AR |
| PAX6 | 607108 | ?Coloboma, ocular | AD |
| Aniridia | AD | ||
| ?Morning glory disc anomaly | AD | ||
| Keratitis | AD | ||
| Optic nerve hypoplasia | AD | ||
| ?Coloboma of optic nerve | AD | ||
| Anterior segment dysgenesis 5, multiple subtypes | AD | ||
| Cataract with late-onset corneal dystrophy | AD | ||
| Foveal hypoplasia 1 | AD | ||
| PCNT | 605925 | Microcephalic osteodysplastic primordial dwarfism, type II | AR |
| PCSK1 | 162150 | Obesity with impaired prohormone processing | AR |
| Obesity, susceptibility to, BMIQ12 | - | ||
| PDE4D | 600129 | Acrodysostosis 2, with or without hormone resistance | AD |
| PEX1 | 602136 | Peroxisome biogenesis disorder 1A (Zellweger) | AR |
| Peroxisome biogenesis disorder 1B (NALD/IRD) | AR | ||
| Heimler syndrome 1 | AR | ||
| PHF6 | 300414 | Borjeson-Forssman-Lehmann syndrome | XLR |
| PITX2 | 601542 | Anterior segment dysgenesis 4 | AD |
| Ring dermoid of cornea | AD | ||
| Axenfeld-Rieger syndrome, type 1 | AD | ||
| PLCZ1 | - | Spermatogenic failure 17 | AR |
| PNPLA6 | 603197 | Spastic paraplegia 39, autosomal recessive | AR |
| Boucher-Neuhauser syndrome | AR | ||
| Oliver-McFarlane syndrome | AR | ||
| ?Laurence-Moon syndrome | AR | ||
| POLR3B | 614366 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | AR |
| Charcot-Marie-Tooth disease, demyelinating, type 1I | AD | ||
| POMC | 176830 | Obesity, adrenal insufficiency, and red hair due to POMC deficiency | AR |
| Obesity, early-onset, susceptibility to | AD, AR, MF | ||
| POR | 124015 | Disordered steroidogenesis due to cytochrome P450 oxidoreductase | - |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | AR | ||
| POU1F1 | 173110 | Pituitary hormone deficiency, combined, 1 | AD, AR |
| PPARG | - | Carotid intimal medial thickness 1 | - |
| Obesity, severe | AD, AR, MF | ||
| Lipodystrophy, familial partial, type 3 | AD | ||
| Diabetes, type 2 | AD | ||
| Insulin resistance, severe, digenic | AD | ||
| PROK2 | 607002 | Hypogonadotropic hypogonadism 4 with or without anosmia | AD |
| PROKR2 | 607123 | Hypogonadotropic hypogonadism 3 with or without anosmia | AD |
| PROM1 | 604365 | Cone-rod dystrophy 12 | AD, AR |
| Macular dystrophy, retinal, 2 | AD | ||
| Retinitis pigmentosa 41 | AR | ||
| Stargardt disease 4 | AD | ||
| PROP1 | 601538 | Pituitary hormone deficiency, combined, 2 | AR |
| PRPH2 | 179605 | Retinitis pigmentosa 7 and digenic form | AD, AR, DD |
| Retinitis punctata albescens | AD, AR | ||
| Choroidal dystrophy, central areolar 2 | AD | ||
| Macular dystrophy, patterned, 1 | AD | ||
| Macular dystrophy, vitelliform, 3 | AD | ||
| Leber congenital amaurosis 18 | AD, AR, DD | ||
| PSMC3IP | 608665 | Ovarian dysgenesis 3 | AR |
| PTDSS1 | 612792 | Lenz-Majewski hyperostotic dwarfism | AD |
| PTPN11 | 176876 | Leukemia, juvenile myelomonocytic, somatic | - |
| LEOPARD syndrome 1 | AD | ||
| Metachondromatosis | AD | ||
| Noonan syndrome 1 | AD | ||
| RBBP8 | 604124 | Seckel syndrome 2 | AR |
| Jawad syndrome | AR | ||
| RDH5 | 601617 | Fundus albipunctatus | AD, AR |
| RHO | 180380 | Retinitis punctata albescens | AD, AR |
| Retinitis pigmentosa 4, autosomal dominant or recessive | AD, AR | ||
| Night blindness, congenital stationary, autosomal dominant 1 | - | ||
| RIPK4 | 605706 | Popliteal pterygium syndrome, Bartsocas-Papas type | AR |
| CHAND syndrome | AR | ||
| RLBP1 | 180090 | Newfoundland rod-cone dystrophy | - |
| Fundus albipunctatus | AD, AR | ||
| Retinitis punctata albescens | AD, AR | ||
| Bothnia retinal dystrophy | AR | ||
| RNF216 | 609948 | Cerebellar ataxia and hypogonadotropic hypogonadism | AR |
| ROR2 | 602337 | Brachydactyly, type B1 | AD |
| Robinow syndrome, autosomal recessive | AR | ||
| RPGRIP1L | 610937 | Joubert syndrome 7 | AR |
| ?COACH syndrome 3 | AR | ||
| Meckel syndrome 5 | AR | ||
| RPL10 | 312173 | Autism, susceptibility to, X-linked 5 | - |
| Mental retardation, X-linked, syndromic, 35 | XLR | ||
| RSPO1 | 609595 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal | AR |
| Palmoplantar hyperkeratosis and true hermaphroditism | AR | ||
| SALL1 | 602218 | Townes-Brocks branchiootorenal-like syndrome | AD |
| Townes-Brocks syndrome 1 | AD | ||
| SAMD9 | 610456 | Monosomy 7 myelodysplasia and leukemia syndrome 2 | AD |
| MIRAGE syndrome | AD | ||
| Tumoral calcinosis, familial, normophosphatemic | AR | ||
| SDCCAG8 | 613524 | Bardet-Biedl syndrome 16 | AR |
| Senior-Loken syndrome 7 | AR | ||
| SEMA3A | 603961 | Hypogonadotropic hypogonadism 16 with or without anosmia | AD |
| SETBP1 | 611060 | Schinzel-Giedion midface retraction syndrome | AD |
| Mental retardation, autosomal dominant 29 | AD | ||
| SGPL1 | 603729 | Nephrotic syndrome, type 14 | AR |
| SOS1 | 182530 | Noonan syndrome 4 | AD |
| ?Fibromatosis, gingival, 1 | AD | ||
| SOX10 | 602229 | Waardenburg syndrome, type 4C | AD |
| PCWH syndrome | AD | ||
| Waardenburg syndrome, type 2E, with or without neurologic involvement | AD | ||
| SOX2 | 184429 | Microphthalmia, syndromic 3 | AD |
| Optic nerve hypoplasia and abnormalities of the central nervous system | AD | ||
| SOX3 | 313430 | Panhypopituitarism, X-linked | XL |
| Mental retardation, X-linked, with isolated growth hormone deficiency | - | ||
| SOX9 | 608160 | Acampomelic campomelic dysplasia | AD |
| Campomelic dysplasia | AD | ||
| Campomelic dysplasia with autosomal sex reversal | AD | ||
| SPAG1 | 603395 | Ciliary dyskinesia, primary, 28 | AR |
| SPECC1L | 614140 | Opitz GBBB syndrome, type II | AD |
| ?Facial clefting, oblique, 1 | AD | ||
| Hypertelorism, Teebi type | AD | ||
| SPRY4 | 607984 | Hypogonadotropic hypogonadism 17 with or without anosmia | AD |
| SRY | 480000 | 46XX sex reversal 1 | XLD |
| 46XY sex reversal 1 | Y-linked | ||
| STAR | 600617 | Lipoid adrenal hyperplasia | AR |
| TAC3 | 162330 | Hypogonadotropic hypogonadism 10 with or without anosmia | AR |
| TACR3 | 162332 | Hypogonadotropic hypogonadism 11 with or without anosmia | AR |
| TBX15 | 604127 | Cousin syndrome | AR |
| TEX11 | 300311 | Spermatogenic failure, X-linked, 2 | XLR |
| TEX15 | 605795 | Spermatogenic failure 25 | AR |
| TLE6 | 612399 | Preimplantation embryonic lethality | AR |
| TMEM67 | 609884 | COACH syndrome 1 | AR |
| ?RHYNS syndrome | AR | ||
| Meckel syndrome 3 | AR | ||
| Joubert syndrome 6 | AR | ||
| Bardet-Biedl syndrome 14, modifier of | AR | ||
| Nephronophthisis 11 | AR | ||
| TMEM70 | 612418 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | AR |
| TOE1 | 613931 | Pontocerebellar hypoplasia, type 7 | AR |
| TP63 | 603273 | Rapp-Hodgkin syndrome | AD |
| Orofacial cleft 8 | - | ||
| Limb-mammary syndrome | AD | ||
| Split-hand/foot malformation 4 | AD | ||
| Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | AD | ||
| Hay-Wells syndrome | AD | ||
| ADULT syndrome | AD | ||
| TRAF3IP1 | 607380 | Senior-Loken syndrome 9 | AR |
| TRAIP | 605958 | Seckel syndrome 9 | AR |
| TRIM32 | 602290 | Muscular dystrophy, limb-girdle, autosomal recessive 8 | AR |
| ?Bardet-Biedl syndrome 11 | AR | ||
| TSPYL1 | 604714 | Sudden infant death with dysgenesis of the testes syndrome | AR |
| TTC12 | 610732 | Ciliary dyskinesia, primary, 45 | AR |
| TTC21B | 612014 | Short-rib thoracic dysplasia 4 with or without polydactyly | AR |
| Nephronophthisis 12 | AD, AR | ||
| TTC8 | - | Bardet-Biedl syndrome 8 | AR |
| ?Retinitis pigmentosa 51 | AR | ||
| TUBB8 | 616768 | Oocyte maturation defect 2 | AD, AR |
| TWIST2 | 607556 | Ablepharon-macrostomia syndrome | AD |
| Focal facial dermal dysplasia 3, Setleis type | AR | ||
| Barber-Say syndrome | AD | ||
| UBR1 | 605981 | Johanson-Blizzard syndrome | AR |
| USP9Y | 400005 | Spermatogenic failure, Y-linked, 2 | Y-linked |
| WDPCP | 613580 | Congenital heart defects, hamartomas of tongue, and polysyndactyly | AR |
| ?Bardet-Biedl syndrome 15 | AR | ||
| WDR11 | 606417 | Hypogonadotropic hypogonadism 14 with or without anosmia | AD |
| WDR35 | 613602 | Cranioectodermal dysplasia 2 | AR |
| Short-rib thoracic dysplasia 7 with or without polydactyly | AR | ||
| WEE2 | 614084 | Oocyte maturation defect 5 | AR |
| WNT4 | 603490 | Mullerian aplasia and hyperandrogenism | AD |
| ?SERKAL syndrome | AR | ||
| ZMYND10 | 607070 | Ciliary dyskinesia, primary, 22 | AR |
| ZP1 | 195000 | Oocyte maturation defect 1 | AR |
| ZP2 | 182888 | Oocyte maturation defect 6 | AR |
| ZP3 | 182889 | Oocyte maturation defect 3 | AD |
COMMON SYNDROMES AND DISORDERS COVERED
- Androgen insensitivity syndrome
- Hypogonadotropic hypogonadism
- Monogenic causes of female infertility
- Monogenic causes of male infertility
- Ovarian hyperstimulation syndrome
- Premature ovarian failure (not FMR1-related)
- Primary ciliary dyskinesia
- Spermatogenic failure
Fertility X panel
Our Fertility X panel is recommended for patients assigned female gender at birth trying to conceive for one year or longer, who have experienced more than one miscarriage, with irregular or absent menstruation, or with absence of development of secondary sexual features. Our panel includes the most important genes related to infertility in females. Knowing the exact cause of infertility allows for better clinical management and enables enhanced counseling and personalized reproductive care plan for couples. Includes MLPA for aneuploidy.
| No. of genes: | 276 |
|---|---|
| TAT: | 25 business days |
| Coverage: | ≥99.0% ≥20x |
| Details: |
NGS including CNV analysis
Repeat expansion analysis: FMR1
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| AKR1C4 | 600451 | 46XY sex reversal 8, modifier of | AR |
| AMH | 600957 | Persistent Mullerian duct syndrome, type I | AR |
| AMHR2 | 600956 | Persistent Mullerian duct syndrome, type II | AR |
| ANOS1 | 300836 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) | XLR |
| AR | 313700 | Androgen insensitivity | XLR |
| Androgen insensitivity, partial, with or without breast cancer | XLR | ||
| Prostate cancer, susceptibility to | AD, SM | ||
| Spinal and bulbar muscular atrophy of Kennedy | XLR | ||
| Hypospadias 1, X-linked | XLR | ||
| ARL13B | 608922 | Joubert syndrome 8 | AR |
| ARL6 | 608845 | Retinitis pigmentosa 55 | AR |
| Bardet-Biedl syndrome 1, modifier of | AR, DR | ||
| Bardet-Biedl syndrome 3 | AR | ||
| ARX | 300382 | Developmental and epileptic encephalopathy 1 | XLR |
| Mental retardation, X-linked 29 and others | XLR | ||
| Hydranencephaly with abnormal genitalia | XL | ||
| Partington syndrome | XLR | ||
| Lissencephaly, X-linked 2 | XL | ||
| Proud syndrome | XL | ||
| ATP6V0A4 | 605239 | Distal renal tubular acidosis 3, with or without sensorineural hearing loss | AR |
| ATRX | 300032 | Mental retardation-hypotonic facies syndrome, X-linked | XLR |
| Alpha-thalassemia/mental retardation syndrome | XLD | ||
| Alpha-thalassemia myelodysplasia syndrome, somatic | - | ||
| AURKC | 603495 | Spermatogenic failure 5 | AR |
| B3GLCT | 610308 | Peters-plus syndrome | AR |
| BBS1 | 209901 | Bardet-Biedl syndrome 1 | AR, DR |
| BBS10 | 610148 | Bardet-Biedl syndrome 10 | AR |
| BBS12 | 610683 | Bardet-Biedl syndrome 12 | AR |
| BBS2 | 606151 | Bardet-Biedl syndrome 2 | AR |
| Retinitis pigmentosa 74 | AR | ||
| BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
| BBS5 | 603650 | Bardet-Biedl syndrome 5 | AR |
| BBS7 | 607590 | Bardet-Biedl syndrome 7 | AR |
| BBS9 | 607968 | Bardet-Biedl syndrome 9 | AR |
| BCOR | - | Microphthalmia, syndromic 2 | XLD |
| BMP15 | 300247 | Premature ovarian failure 4 | XL |
| Ovarian dysgenesis 2 | XL | ||
| BMP4 | 112262 | Microphthalmia, syndromic 6 | AD |
| Orofacial cleft 11 | - | ||
| BNC2 | 608669 | Lower urinary tract obstruction, congenital | AD |
| CATSPER1 | 606389 | Spermatogenic failure 7 | AR |
| CC2D2A | 612013 | Meckel syndrome 6 | AR |
| Retinitis pigmentosa 93 | AR | ||
| Joubert syndrome 9 | AR | ||
| COACH syndrome 2 | AR | ||
| CCDC103 | 614677 | Ciliary dyskinesia, primary, 17 | AR |
| CCDC28B | 610162 | Bardet-Biedl syndrome 1, modifier of | AR, DR |
| CCDC39 | 613798 | Ciliary dyskinesia, primary, 14 | AR |
| CCDC40 | 613799 | Ciliary dyskinesia, primary, 15 | AR |
| CDKN1C | 600856 | IMAGE syndrome | AD |
| Beckwith-Wiedemann syndrome | AD | ||
| CEP164 | 614848 | Nephronophthisis 15 | AR |
| CEP290 | 610142 | Leber congenital amaurosis 10 | - |
| Meckel syndrome 4 | AR | ||
| ?Bardet-Biedl syndrome 14 | AR | ||
| Senior-Loken syndrome 6 | AR | ||
| Joubert syndrome 5 | AR | ||
| CEP41 | 610523 | Joubert syndrome 15 | AR |
| CFAP298 | 615494 | Ciliary dyskinesia, primary, 26 | AR |
| CFAP300 | 618058 | Ciliary dyskinesia, primary, 38 | AR |
| CFAP418 | 614477 | Retinitis pigmentosa 64 | AR |
| Cone-rod dystrophy 16 | AR | ||
| Bardet-Biedl syndrome 21 | AR | ||
| CFTR | 602421 | Congenital bilateral absence of vas deferens | AR |
| Pancreatitis, hereditary | AD | ||
| Bronchiectasis with or without elevated sweat chloride 1, modifier of | AD | ||
| Cystic fibrosis | AR | ||
| CHD4 | 603277 | Sifrim-Hitz-Weiss syndrome | AD |
| CHD7 | 608892 | CHARGE syndrome | AD |
| Hypogonadotropic hypogonadism 5 with or without anosmia | AD | ||
| CREBBP | 600140 | Menke-Hennekam syndrome 1 | AD |
| Rubinstein-Taybi syndrome 1 | AD | ||
| CUL4B | 300304 | Mental retardation, X-linked, syndromic 15 (Cabezas type) | XLR |
| CUL7 | 609577 | 3-M syndrome 1 | AR |
| CYB5A | 613218 | Methemoglobinemia and ambiguous genitalia | AR |
| CYP11A1 | 118485 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete | - |
| CYP11B1 | 610613 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | AR |
| Aldosteronism, glucocorticoid-remediable | AD | ||
| CYP17A1 | 609300 | 17, 20-lyase deficiency, isolated | AR |
| 17-alpha-hydroxylase/17, 20-lyase deficiency | AR | ||
| CYP19A1 | 107910 | Aromatase excess syndrome | AD |
| Aromatase deficiency | - | ||
| CYP21A2 | 613815 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | AR |
| Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency | AR | ||
| DHCR24 | 606418 | Desmosterolosis | AR |
| DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
| DHH | 605423 | 46XY gonadal dysgenesis with minifascicular neuropathy | AR |
| 46XY sex reversal 7 | AR | ||
| DNAAF1 | 613190 | Ciliary dyskinesia, primary, 13 | AR |
| DNAAF11 | 614930 | Ciliary dyskinesia, primary, 19 | AR |
| DNAAF2 | 612517 | Ciliary dyskinesia, primary, 10 | AR |
| DNAAF3 | 614566 | Ciliary dyskinesia, primary, 2 | AR |
| DNAAF4 | 608706 | Dyslexia, susceptibility to, 1 | AD |
| Ciliary dyskinesia, primary, 25 | AR | ||
| DNAAF5 | 614864 | Ciliary dyskinesia, primary, 18 | AR |
| DNAAF6 | 300933 | Ciliary dyskinesia, primary, 36, X-linked | XLR |
| DNAH11 | 603339 | Ciliary dyskinesia, primary, 7, with or without situs inversus | AR |
| DNAH5 | 603335 | Ciliary dyskinesia, primary, 3, with or without situs inversus | AR |
| DNAH9 | 603330 | Ciliary dyskinesia, primary, 40 | AR |
| DNAI1 | 604366 | Ciliary dyskinesia, primary, 1, with or without situs inversus | AR |
| DNAI2 | 605483 | Ciliary dyskinesia, primary, 9, with or without situs inversus | AR |
| DNAL1 | 610062 | Ciliary dyskinesia, primary, 16 | AR |
| DUSP6 | 602748 | Hypogonadotropic hypogonadism 19 with or without anosmia | AD |
| DYNC2H1 | 603297 | Short-rib thoracic dysplasia 3 with or without polydactyly | AR, DR |
| DYNC2I1 | 615462 | Short-rib thoracic dysplasia 8 with or without polydactyly | AR |
| EFNB1 | 300035 | Craniofrontonasal dysplasia | XLD |
| ENPP1 | 173335 | Arterial calcification, generalized, of infancy, 1 | AR |
| Obesity, susceptibility to | AD, AR, MF | ||
| Hypophosphatemic rickets, autosomal recessive, 2 | AR | ||
| Cole disease | AD | ||
| Diabetes mellitus, non-insulin-dependent, susceptibility to | AD | ||
| EPG5 | 615068 | Vici syndrome | AR |
| ERAL1 | 607435 | Perrault syndrome 6 | AR |
| ESCO2 | 609353 | Roberts syndrome | AR |
| Juberg-Hayward syndrome | AR | ||
| SC phocomelia syndrome | AR | ||
| EVC | 604831 | Ellis-van Creveld syndrome | AR |
| ?Weyers acrofacial dysostosis | AD | ||
| EVC2 | 607261 | Ellis-van Creveld syndrome | AR |
| Weyers acrofacial dysostosis | AD | ||
| FAT4 | 612411 | Hennekam lymphangiectasia-lymphedema syndrome 2 | AR |
| Van Maldergem syndrome 2 | AR | ||
| FBXL4 | 605654 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | AR |
| FEZF1 | 613301 | Hypogonadotropic hypogonadism 22, with or without anosmia | AR |
| FGF10 | 602115 | Aplasia of lacrimal and salivary glands | AD |
| LADD syndrome | AD | ||
| FGF17 | 603725 | Hypogonadotropic hypogonadism 20 with or without anosmia | AD |
| FGF8 | 600483 | Hypogonadotropic hypogonadism 6 with or without anosmia | AD |
| FGFR1 | 136350 | Osteoglophonic dysplasia | AD |
| Trigonocephaly 1 | AD | ||
| Pfeiffer syndrome | AD | ||
| Encephalocraniocutaneous lipomatosis, somatic mosaic | - | ||
| Hypogonadotropic hypogonadism 2 with or without anosmia | AD | ||
| Jackson-Weiss syndrome | AD | ||
| Hartsfield syndrome | AD | ||
| FGFR2 | 176943 | Crouzon syndrome | AD |
| Saethre-Chotzen syndrome | AD | ||
| Craniofacial-skeletal-dermatologic dysplasia | AD | ||
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | AD | ||
| Gastric cancer, somatic | - | ||
| LADD syndrome | AD | ||
| Beare-Stevenson cutis gyrata syndrome | AD | ||
| Scaphocephaly, maxillary retrusion, and mental retardation | - | ||
| Apert syndrome | AD | ||
| Bent bone dysplasia syndrome | AD | ||
| Pfeiffer syndrome | AD | ||
| Jackson-Weiss syndrome | AD | ||
| FGFR3 | 134934 | Achondroplasia | AD |
| CATSHL syndrome | AD, AR | ||
| Thanatophoric dysplasia, type I | AD | ||
| Bladder cancer, somatic | - | ||
| Hypochondroplasia | AD | ||
| SADDAN | AD | ||
| Colorectal cancer, somatic | - | ||
| Crouzon syndrome with acanthosis nigricans | AD | ||
| Cervical cancer, somatic | - | ||
| Nevus, epidermal, somatic | - | ||
| Thanatophoric dysplasia, type II | AD | ||
| Spermatocytic seminoma, somatic | - | ||
| Muenke syndrome | AD | ||
| LADD syndrome | AD | ||
| FIG4 | 609390 | Amyotrophic lateral sclerosis 11 | AD |
| Yunis-Varon syndrome | AR | ||
| Charcot-Marie-Tooth disease, type 4J | AR | ||
| ?Polymicrogyria, bilateral temporooccipital | AR | ||
| FLNA | 300017 | Frontometaphyseal dysplasia 1 | XLR |
| Heterotopia, periventricular, 1 | XLD | ||
| Terminal osseous dysplasia | XLD | ||
| Congenital short bowel syndrome | XLR | ||
| Otopalatodigital syndrome, type II | XLD | ||
| Melnick-Needles syndrome | XLD | ||
| Cardiac valvular dysplasia, X-linked | XL | ||
| Intestinal pseudoobstruction, neuronal | XLR | ||
| ?FG syndrome 2 | XL | ||
| Otopalatodigital syndrome, type I | XLD | ||
| FLRT3 | 604808 | Hypogonadotropic hypogonadism 21 with anosmia | AD |
| FMR1 | 309550 | Premature ovarian failure 1 | XL |
| Fragile X syndrome | XLD | ||
| Fragile X tremor/ataxia syndrome | XLD | ||
| FOXJ1 | 602291 | Ciliary dyskinesia, primary, 43 | AD |
| FOXL2 | 605597 | Blepharophimosis, epicanthus inversus, and ptosis, type 1 | AD, AR |
| Blepharophimosis, epicanthus inversus, and ptosis, type 2 | AD, AR | ||
| Premature ovarian failure 3 | AD | ||
| FRAS1 | 607830 | Fraser syndrome 1 | AR |
| FREM2 | 608945 | Fraser syndrome 2 | AR |
| Cryptophthalmos, unilateral or bilateral, isolated | AR | ||
| FSHB | 136530 | Hypogonadotropic hypogonadism 24 without anosmia | AR |
| FSHR | 136435 | Ovarian dysgenesis 1 | AR |
| Ovarian response to FSH stimulation | AR | ||
| Ovarian hyperstimulation syndrome | AD | ||
| GAS8 | 605178 | Ciliary dyskinesia, primary, 33 | AR |
| GATA4 | 600576 | Atrioventricular septal defect 4 | AD |
| ?Testicular anomalies with or without congenital heart disease | AD | ||
| Ventricular septal defect 1 | AD | ||
| Tetralogy of Fallot | AD | ||
| Atrial septal defect 2 | AD | ||
| GLI3 | 165240 | Pallister-Hall syndrome | AD |
| Polydactyly, preaxial, type IV | AD | ||
| Polydactyly, postaxial, types A1 and B | AD | ||
| Greig cephalopolysyndactyly syndrome | AD | ||
| GNRH1 | 152760 | ?Hypogonadotropic hypogonadism 12 with or without anosmia | AR |
| GNRHR | 138850 | Hypogonadotropic hypogonadism 7 without anosmia | AR |
| GPC3 | 300037 | Simpson-Golabi-Behmel syndrome, type 1 | XLR |
| Wilms tumor, somatic | - | ||
| GRIP1 | 604597 | Fraser syndrome 3 | AR |
| HBA1 | 141800 | Methemoglobinemia, alpha type | AD |
| Heinz body anemias, alpha- | AD | ||
| Erythrocytosis 7 | AD | ||
| Thalassemias, alpha- | - | ||
| Hemoglobin H disease, nondeletional | - | ||
| HCCS | 300056 | Linear skin defects with multiple congenital anomalies 1 | XLD |
| HESX1 | 601802 | Septooptic dysplasia | AD, AR |
| Pituitary hormone deficiency, combined, 5 | AD, AR | ||
| Growth hormone deficiency with pituitary anomalies | AD, AR | ||
| HEXA | 606869 | Tay-Sachs disease | AR |
| [Hex A pseudodeficiency] | AR | ||
| GM2-gangliosidosis, several forms | AR | ||
| HFE | 613609 | Porphyria variegata, susceptibility to | AD |
| Alzheimer disease, susceptibility to | AD | ||
| Hemochromatosis | AR | ||
| [Transferrin serum level QTL2] | - | ||
| Porphyria cutanea tarda, susceptibility to | AD, AR | ||
| Microvascular complications of diabetes 7 | - | ||
| HNF1B | 189907 | Renal cysts and diabetes syndrome | AD |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| Renal cell carcinoma | - | ||
| HOXA13 | 142959 | ?Guttmacher syndrome | AD |
| Hand-foot-uterus syndrome | AD | ||
| HS6ST1 | 604846 | Hypogonadotropic hypogonadism 15 with or without anosmia | AD |
| HSD17B3 | 605573 | Pseudohermaphroditism, male, with gynecomastia | AR |
| HSD17B4 | 601860 | Perrault syndrome 1 | AR |
| D-bifunctional protein deficiency | AR | ||
| HSD3B2 | 613890 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR |
| HUWE1 | 300697 | Mental retardation, X-linked syndromic, Turner type | XL |
| IFT172 | 607386 | Retinitis pigmentosa 71 | AR |
| Bardet-Biedl syndrome 20 | AR | ||
| Short-rib thoracic dysplasia 10 with or without polydactyly | AR | ||
| IFT27 | 615870 | ?Bardet-Biedl syndrome 19 | AR |
| IL17RD | 606807 | Hypogonadotropic hypogonadism 18 with or without anosmia | AD, AR, DD |
| INPP5E | 613037 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
| Joubert syndrome 1 | AR | ||
| INSL3 | 146738 | Cryptorchidism | AD |
| IRF6 | 607199 | Orofacial cleft 6 | AD |
| van der Woude syndrome | AD | ||
| Popliteal pterygium syndrome 1 | AD | ||
| KHDC3L | 611687 | Hydatidiform mole, recurrent, 2 | AR |
| KIF7 | 611254 | Joubert syndrome 12 | AR |
| ?Hydrolethalus syndrome 2 | AR | ||
| ?Al-Gazali-Bakalinova syndrome | AR | ||
| Acrocallosal syndrome | AR | ||
| KISS1 | 603286 | ?Hypogonadotropic hypogonadism 13 with or without anosmia | AR |
| KISS1R | 604161 | ?Precocious puberty, central, 1 | AD |
| Hypogonadotropic hypogonadism 8 with or without anosmia | AR | ||
| LEP | 164160 | Obesity, morbid, due to leptin deficiency | AR |
| LEPR | 601007 | Obesity, morbid, due to leptin receptor deficiency | AR |
| LHB | 152780 | Hypogonadotropic hypogonadism 23 with or without anosmia | AR |
| LHCGR | 152790 | Leydig cell hypoplasia with pseudohermaphroditism | AR |
| Leydig cell adenoma, somatic, with precocious puberty | - | ||
| Precocious puberty, male | AD | ||
| Leydig cell hypoplasia with hypergonadotropic hypogonadism | AR | ||
| Luteinizing hormone resistance, female | AR | ||
| LHX3 | 600577 | Pituitary hormone deficiency, combined, 3 | AR |
| LHX4 | 602146 | Pituitary hormone deficiency, combined, 4 | AD |
| LMNA | 150330 | Restrictive dermopathy 2 | - |
| Malouf syndrome | AD | ||
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | AR | ||
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | AD | ||
| Hutchinson-Gilford progeria | AD | ||
| Muscular dystrophy, congenital | AD | ||
| Restrictive dermopathy, lethal | AR | ||
| Lipodystrophy, familial partial, type 2 | AD | ||
| Charcot-Marie-Tooth disease, type 2B1 | AR | ||
| Mandibuloacral dysplasia | AR | ||
| Cardiomyopathy, dilated, 1A | AD | ||
| Heart-hand syndrome, Slovenian type | AD | ||
| LRRC56 | 618227 | Ciliary dyskinesia, primary, 39 | AR |
| LZTFL1 | 606568 | Bardet-Biedl syndrome 17 | AR |
| MAMLD1 | 300120 | Hypospadias 2, X-linked | XLR |
| MAP3K1 | 600982 | 46XY sex reversal 6 | AD |
| MCM9 | 610098 | Ovarian dysgenesis 4 | AR |
| MED12 | 300188 | Opitz-Kaveggia syndrome | XLR |
| Lujan-Fryns syndrome | XLR | ||
| Ohdo syndrome, X-linked | XLR | ||
| Hardikar syndrome | XLD | ||
| MID1 | - | Opitz GBBB syndrome, type I | XLR |
| MKKS | 604896 | McKusick-Kaufman syndrome | AR |
| Bardet-Biedl syndrome 6 | AR | ||
| MKS1 | 609883 | Bardet-Biedl syndrome 13 | AR |
| Joubert syndrome 28 | AR | ||
| Meckel syndrome 1 | AR | ||
| MYO7A | 276903 | Deafness, autosomal dominant 11 | AD |
| Usher syndrome, type 1B | AR | ||
| Deafness, autosomal recessive 2 | AR | ||
| MYRF | 608329 | Encephalitis/encephalopathy, mild, with reversible myelin vacuolization | AD |
| Cardiac-urogenital syndrome | AD | ||
| NEK1 | 604588 | Short-rib thoracic dysplasia 6 with or without polydactyly | AR, DR |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | AD | ||
| NEK10 | 618726 | Ciliary dyskinesia, primary, 44 | AR |
| NME8 | 607421 | Ciliary dyskinesia, primary, 6 | AR |
| NPHP1 | 607100 | Joubert syndrome 4 | AR |
| Nephronophthisis 1, juvenile | AR | ||
| Senior-Loken syndrome-1 | AR | ||
| NPHP3 | 608002 | Nephronophthisis 3 | AR |
| Meckel syndrome 7 | AR | ||
| Renal-hepatic-pancreatic dysplasia 1 | AR | ||
| NR0B1 | - | Adrenal hypoplasia, congenital | XLR |
| 46XY sex reversal 2, dosage-sensitive | XL | ||
| NR0B2 | 604630 | Obesity, mild, early-onset | AD, AR, MF |
| NR3C1 | 138040 | Glucocorticoid resistance | AD |
| NR5A1 | 184757 | 46, XX sex reversal 4 | AD |
| Adrenocortical insufficiency | AD | ||
| 46XY sex reversal 3 | AD | ||
| Premature ovarian failure 7 | AD | ||
| Spermatogenic failure 8 | AD | ||
| NSMF | - | Hypogonadotropic hypogonadism 9 with or without anosmia | AD |
| ODAD1 | 615038 | Ciliary dyskinesia, primary, 20 | AR |
| ODAD2 | 615408 | Ciliary dyskinesia, primary, 23 | AR |
| ODAD3 | 615956 | Ciliary dyskinesia, primary, 30 | AR |
| ODAD4 | 617095 | Ciliary dyskinesia, primary, 35 | AR |
| OFD1 | 300170 | Joubert syndrome 10 | XLR |
| Simpson-Golabi-Behmel syndrome, type 2 | XLR | ||
| ?Retinitis pigmentosa 23 | XLR | ||
| Orofaciodigital syndrome I | XLD | ||
| OPHN1 | 300127 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | XLR |
| PANX1 | 608420 | Oocyte maturation defect 7 | AD |
| PATL2 | 614661 | Oocyte maturation defect 4 | AR |
| PAX6 | 607108 | ?Coloboma, ocular | AD |
| Aniridia | AD | ||
| ?Morning glory disc anomaly | AD | ||
| Keratitis | AD | ||
| Optic nerve hypoplasia | AD | ||
| ?Coloboma of optic nerve | AD | ||
| Anterior segment dysgenesis 5, multiple subtypes | AD | ||
| Cataract with late-onset corneal dystrophy | AD | ||
| Foveal hypoplasia 1 | AD | ||
| PCNT | 605925 | Microcephalic osteodysplastic primordial dwarfism, type II | AR |
| PCSK1 | 162150 | Obesity with impaired prohormone processing | AR |
| Obesity, susceptibility to, BMIQ12 | - | ||
| PDE4D | 600129 | Acrodysostosis 2, with or without hormone resistance | AD |
| PEX1 | 602136 | Peroxisome biogenesis disorder 1A (Zellweger) | AR |
| Peroxisome biogenesis disorder 1B (NALD/IRD) | AR | ||
| Heimler syndrome 1 | AR | ||
| PHF6 | 300414 | Borjeson-Forssman-Lehmann syndrome | XLR |
| PITX2 | 601542 | Anterior segment dysgenesis 4 | AD |
| Ring dermoid of cornea | AD | ||
| Axenfeld-Rieger syndrome, type 1 | AD | ||
| PLCZ1 | - | Spermatogenic failure 17 | AR |
| PNPLA6 | 603197 | Spastic paraplegia 39, autosomal recessive | AR |
| Boucher-Neuhauser syndrome | AR | ||
| Oliver-McFarlane syndrome | AR | ||
| ?Laurence-Moon syndrome | AR | ||
| POLR3B | 614366 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | AR |
| Charcot-Marie-Tooth disease, demyelinating, type 1I | AD | ||
| POMC | 176830 | Obesity, adrenal insufficiency, and red hair due to POMC deficiency | AR |
| Obesity, early-onset, susceptibility to | AD, AR, MF | ||
| POR | 124015 | Disordered steroidogenesis due to cytochrome P450 oxidoreductase | - |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | AR | ||
| POU1F1 | 173110 | Pituitary hormone deficiency, combined, 1 | AD, AR |
| PPARG | - | Carotid intimal medial thickness 1 | - |
| Obesity, severe | AD, AR, MF | ||
| Lipodystrophy, familial partial, type 3 | AD | ||
| Diabetes, type 2 | AD | ||
| Insulin resistance, severe, digenic | AD | ||
| PROK2 | 607002 | Hypogonadotropic hypogonadism 4 with or without anosmia | AD |
| PROKR2 | 607123 | Hypogonadotropic hypogonadism 3 with or without anosmia | AD |
| PROM1 | 604365 | Cone-rod dystrophy 12 | AD, AR |
| Macular dystrophy, retinal, 2 | AD | ||
| Retinitis pigmentosa 41 | AR | ||
| Stargardt disease 4 | AD | ||
| PROP1 | 601538 | Pituitary hormone deficiency, combined, 2 | AR |
| PRPH2 | 179605 | Retinitis pigmentosa 7 and digenic form | AD, AR, DD |
| Retinitis punctata albescens | AD, AR | ||
| Choroidal dystrophy, central areolar 2 | AD | ||
| Macular dystrophy, patterned, 1 | AD | ||
| Macular dystrophy, vitelliform, 3 | AD | ||
| Leber congenital amaurosis 18 | AD, AR, DD | ||
| PSMC3IP | 608665 | Ovarian dysgenesis 3 | AR |
| PTDSS1 | 612792 | Lenz-Majewski hyperostotic dwarfism | AD |
| PTPN11 | 176876 | Leukemia, juvenile myelomonocytic, somatic | - |
| LEOPARD syndrome 1 | AD | ||
| Metachondromatosis | AD | ||
| Noonan syndrome 1 | AD | ||
| RBBP8 | 604124 | Seckel syndrome 2 | AR |
| Jawad syndrome | AR | ||
| RDH5 | 601617 | Fundus albipunctatus | AD, AR |
| RHO | 180380 | Retinitis punctata albescens | AD, AR |
| Retinitis pigmentosa 4, autosomal dominant or recessive | AD, AR | ||
| Night blindness, congenital stationary, autosomal dominant 1 | - | ||
| RIPK4 | 605706 | Popliteal pterygium syndrome, Bartsocas-Papas type | AR |
| CHAND syndrome | AR | ||
| RLBP1 | 180090 | Newfoundland rod-cone dystrophy | - |
| Fundus albipunctatus | AD, AR | ||
| Retinitis punctata albescens | AD, AR | ||
| Bothnia retinal dystrophy | AR | ||
| RNF216 | 609948 | Cerebellar ataxia and hypogonadotropic hypogonadism | AR |
| ROR2 | 602337 | Brachydactyly, type B1 | AD |
| Robinow syndrome, autosomal recessive | AR | ||
| RPGRIP1L | 610937 | Joubert syndrome 7 | AR |
| ?COACH syndrome 3 | AR | ||
| Meckel syndrome 5 | AR | ||
| RPL10 | 312173 | Autism, susceptibility to, X-linked 5 | - |
| Mental retardation, X-linked, syndromic, 35 | XLR | ||
| RSPO1 | 609595 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal | AR |
| Palmoplantar hyperkeratosis and true hermaphroditism | AR | ||
| SALL1 | 602218 | Townes-Brocks branchiootorenal-like syndrome | AD |
| Townes-Brocks syndrome 1 | AD | ||
| SAMD9 | 610456 | Monosomy 7 myelodysplasia and leukemia syndrome 2 | AD |
| MIRAGE syndrome | AD | ||
| Tumoral calcinosis, familial, normophosphatemic | AR | ||
| SDCCAG8 | 613524 | Bardet-Biedl syndrome 16 | AR |
| Senior-Loken syndrome 7 | AR | ||
| SEMA3A | 603961 | Hypogonadotropic hypogonadism 16 with or without anosmia | AD |
| SETBP1 | 611060 | Schinzel-Giedion midface retraction syndrome | AD |
| Mental retardation, autosomal dominant 29 | AD | ||
| SGPL1 | 603729 | Nephrotic syndrome, type 14 | AR |
| SOS1 | 182530 | Noonan syndrome 4 | AD |
| ?Fibromatosis, gingival, 1 | AD | ||
| SOX10 | 602229 | Waardenburg syndrome, type 4C | AD |
| PCWH syndrome | AD | ||
| Waardenburg syndrome, type 2E, with or without neurologic involvement | AD | ||
| SOX2 | 184429 | Microphthalmia, syndromic 3 | AD |
| Optic nerve hypoplasia and abnormalities of the central nervous system | AD | ||
| SOX3 | 313430 | Panhypopituitarism, X-linked | XL |
| Mental retardation, X-linked, with isolated growth hormone deficiency | - | ||
| SOX9 | 608160 | Acampomelic campomelic dysplasia | AD |
| Campomelic dysplasia | AD | ||
| Campomelic dysplasia with autosomal sex reversal | AD | ||
| SPAG1 | 603395 | Ciliary dyskinesia, primary, 28 | AR |
| SPECC1L | 614140 | Opitz GBBB syndrome, type II | AD |
| ?Facial clefting, oblique, 1 | AD | ||
| Hypertelorism, Teebi type | AD | ||
| SPRY4 | 607984 | Hypogonadotropic hypogonadism 17 with or without anosmia | AD |
| SRY | 480000 | 46XX sex reversal 1 | XLD |
| 46XY sex reversal 1 | Y-linked | ||
| STAR | 600617 | Lipoid adrenal hyperplasia | AR |
| TAC3 | 162330 | Hypogonadotropic hypogonadism 10 with or without anosmia | AR |
| TACR3 | 162332 | Hypogonadotropic hypogonadism 11 with or without anosmia | AR |
| TBX15 | 604127 | Cousin syndrome | AR |
| TEX11 | 300311 | Spermatogenic failure, X-linked, 2 | XLR |
| TEX15 | 605795 | Spermatogenic failure 25 | AR |
| TLE6 | 612399 | Preimplantation embryonic lethality | AR |
| TMEM67 | 609884 | COACH syndrome 1 | AR |
| ?RHYNS syndrome | AR | ||
| Meckel syndrome 3 | AR | ||
| Joubert syndrome 6 | AR | ||
| Bardet-Biedl syndrome 14, modifier of | AR | ||
| Nephronophthisis 11 | AR | ||
| TMEM70 | 612418 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | AR |
| TOE1 | 613931 | Pontocerebellar hypoplasia, type 7 | AR |
| TP63 | 603273 | Rapp-Hodgkin syndrome | AD |
| Orofacial cleft 8 | - | ||
| Limb-mammary syndrome | AD | ||
| Split-hand/foot malformation 4 | AD | ||
| Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | AD | ||
| Hay-Wells syndrome | AD | ||
| ADULT syndrome | AD | ||
| TRAF3IP1 | 607380 | Senior-Loken syndrome 9 | AR |
| TRAIP | 605958 | Seckel syndrome 9 | AR |
| TRIM32 | 602290 | Muscular dystrophy, limb-girdle, autosomal recessive 8 | AR |
| ?Bardet-Biedl syndrome 11 | AR | ||
| TSPYL1 | 604714 | Sudden infant death with dysgenesis of the testes syndrome | AR |
| TTC12 | 610732 | Ciliary dyskinesia, primary, 45 | AR |
| TTC21B | 612014 | Short-rib thoracic dysplasia 4 with or without polydactyly | AR |
| Nephronophthisis 12 | AD, AR | ||
| TTC8 | - | Bardet-Biedl syndrome 8 | AR |
| ?Retinitis pigmentosa 51 | AR | ||
| TUBB8 | 616768 | Oocyte maturation defect 2 | AD, AR |
| TWIST2 | 607556 | Ablepharon-macrostomia syndrome | AD |
| Focal facial dermal dysplasia 3, Setleis type | AR | ||
| Barber-Say syndrome | AD | ||
| UBR1 | 605981 | Johanson-Blizzard syndrome | AR |
| USP9Y | 400005 | Spermatogenic failure, Y-linked, 2 | Y-linked |
| WDPCP | 613580 | Congenital heart defects, hamartomas of tongue, and polysyndactyly | AR |
| ?Bardet-Biedl syndrome 15 | AR | ||
| WDR11 | 606417 | Hypogonadotropic hypogonadism 14 with or without anosmia | AD |
| WDR35 | 613602 | Cranioectodermal dysplasia 2 | AR |
| Short-rib thoracic dysplasia 7 with or without polydactyly | AR | ||
| WEE2 | 614084 | Oocyte maturation defect 5 | AR |
| WNT4 | 603490 | Mullerian aplasia and hyperandrogenism | AD |
| ?SERKAL syndrome | AR | ||
| ZMYND10 | 607070 | Ciliary dyskinesia, primary, 22 | AR |
| ZP1 | 195000 | Oocyte maturation defect 1 | AR |
| ZP2 | 182888 | Oocyte maturation defect 6 | AR |
| ZP3 | 182889 | Oocyte maturation defect 3 | AD |
COMMON SYNDROMES AND DISORDERS COVERED
- Complete androgen insensitivity syndrome
- Hypogonadotropic hypogonadism
- Monogenic causes of female infertility
- Ovarian hyperstimulation syndrome
- Premature ovarian failure
- Turner syndrome
Fertility Y panel
Our Fertility Y panel is recommended for patients assigned male gender at birth with known fertility problems, part of a couple that has experienced more than one miscarriage, with low sperm count, form, or movement, or with absence of development of secondary sexual features. Our panel includes the most important genes related to infertility in males. Knowing the exact cause of infertility allows for better clinical management and enables enhanced counseling and personalized reproductive care plan for couples. Includes MLPA for aneuploidy and the AZF region.
| No. of genes: | 276 |
|---|---|
| TAT: | 25 business days |
| Coverage: | ≥99.0% ≥20x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| AKR1C4 | 600451 | 46XY sex reversal 8, modifier of | AR |
| AMH | 600957 | Persistent Mullerian duct syndrome, type I | AR |
| AMHR2 | 600956 | Persistent Mullerian duct syndrome, type II | AR |
| ANOS1 | 300836 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) | XLR |
| AR | 313700 | Androgen insensitivity | XLR |
| Androgen insensitivity, partial, with or without breast cancer | XLR | ||
| Prostate cancer, susceptibility to | AD, SM | ||
| Spinal and bulbar muscular atrophy of Kennedy | XLR | ||
| Hypospadias 1, X-linked | XLR | ||
| ARL13B | 608922 | Joubert syndrome 8 | AR |
| ARL6 | 608845 | Retinitis pigmentosa 55 | AR |
| Bardet-Biedl syndrome 1, modifier of | AR, DR | ||
| Bardet-Biedl syndrome 3 | AR | ||
| ARX | 300382 | Developmental and epileptic encephalopathy 1 | XLR |
| Mental retardation, X-linked 29 and others | XLR | ||
| Hydranencephaly with abnormal genitalia | XL | ||
| Partington syndrome | XLR | ||
| Lissencephaly, X-linked 2 | XL | ||
| Proud syndrome | XL | ||
| ATP6V0A4 | 605239 | Distal renal tubular acidosis 3, with or without sensorineural hearing loss | AR |
| ATRX | 300032 | Mental retardation-hypotonic facies syndrome, X-linked | XLR |
| Alpha-thalassemia/mental retardation syndrome | XLD | ||
| Alpha-thalassemia myelodysplasia syndrome, somatic | - | ||
| AURKC | 603495 | Spermatogenic failure 5 | AR |
| B3GLCT | 610308 | Peters-plus syndrome | AR |
| BBS1 | 209901 | Bardet-Biedl syndrome 1 | AR, DR |
| BBS10 | 610148 | Bardet-Biedl syndrome 10 | AR |
| BBS12 | 610683 | Bardet-Biedl syndrome 12 | AR |
| BBS2 | 606151 | Bardet-Biedl syndrome 2 | AR |
| Retinitis pigmentosa 74 | AR | ||
| BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
| BBS5 | 603650 | Bardet-Biedl syndrome 5 | AR |
| BBS7 | 607590 | Bardet-Biedl syndrome 7 | AR |
| BBS9 | 607968 | Bardet-Biedl syndrome 9 | AR |
| BCOR | - | Microphthalmia, syndromic 2 | XLD |
| BMP15 | 300247 | Premature ovarian failure 4 | XL |
| Ovarian dysgenesis 2 | XL | ||
| BMP4 | 112262 | Microphthalmia, syndromic 6 | AD |
| Orofacial cleft 11 | - | ||
| BNC2 | 608669 | Lower urinary tract obstruction, congenital | AD |
| CATSPER1 | 606389 | Spermatogenic failure 7 | AR |
| CC2D2A | 612013 | Meckel syndrome 6 | AR |
| Retinitis pigmentosa 93 | AR | ||
| Joubert syndrome 9 | AR | ||
| COACH syndrome 2 | AR | ||
| CCDC103 | 614677 | Ciliary dyskinesia, primary, 17 | AR |
| CCDC28B | 610162 | Bardet-Biedl syndrome 1, modifier of | AR, DR |
| CCDC39 | 613798 | Ciliary dyskinesia, primary, 14 | AR |
| CCDC40 | 613799 | Ciliary dyskinesia, primary, 15 | AR |
| CDKN1C | 600856 | IMAGE syndrome | AD |
| Beckwith-Wiedemann syndrome | AD | ||
| CEP164 | 614848 | Nephronophthisis 15 | AR |
| CEP290 | 610142 | Leber congenital amaurosis 10 | - |
| Meckel syndrome 4 | AR | ||
| ?Bardet-Biedl syndrome 14 | AR | ||
| Senior-Loken syndrome 6 | AR | ||
| Joubert syndrome 5 | AR | ||
| CEP41 | 610523 | Joubert syndrome 15 | AR |
| CFAP298 | 615494 | Ciliary dyskinesia, primary, 26 | AR |
| CFAP300 | 618058 | Ciliary dyskinesia, primary, 38 | AR |
| CFAP418 | 614477 | Retinitis pigmentosa 64 | AR |
| Cone-rod dystrophy 16 | AR | ||
| Bardet-Biedl syndrome 21 | AR | ||
| CFTR | 602421 | Congenital bilateral absence of vas deferens | AR |
| Pancreatitis, hereditary | AD | ||
| Bronchiectasis with or without elevated sweat chloride 1, modifier of | AD | ||
| Cystic fibrosis | AR | ||
| CHD4 | 603277 | Sifrim-Hitz-Weiss syndrome | AD |
| CHD7 | 608892 | CHARGE syndrome | AD |
| Hypogonadotropic hypogonadism 5 with or without anosmia | AD | ||
| CREBBP | 600140 | Menke-Hennekam syndrome 1 | AD |
| Rubinstein-Taybi syndrome 1 | AD | ||
| CUL4B | 300304 | Mental retardation, X-linked, syndromic 15 (Cabezas type) | XLR |
| CUL7 | 609577 | 3-M syndrome 1 | AR |
| CYB5A | 613218 | Methemoglobinemia and ambiguous genitalia | AR |
| CYP11A1 | 118485 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete | - |
| CYP11B1 | 610613 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | AR |
| Aldosteronism, glucocorticoid-remediable | AD | ||
| CYP17A1 | 609300 | 17, 20-lyase deficiency, isolated | AR |
| 17-alpha-hydroxylase/17, 20-lyase deficiency | AR | ||
| CYP19A1 | 107910 | Aromatase excess syndrome | AD |
| Aromatase deficiency | - | ||
| CYP21A2 | 613815 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | AR |
| Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency | AR | ||
| DHCR24 | 606418 | Desmosterolosis | AR |
| DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
| DHH | 605423 | 46XY gonadal dysgenesis with minifascicular neuropathy | AR |
| 46XY sex reversal 7 | AR | ||
| DNAAF1 | 613190 | Ciliary dyskinesia, primary, 13 | AR |
| DNAAF11 | 614930 | Ciliary dyskinesia, primary, 19 | AR |
| DNAAF2 | 612517 | Ciliary dyskinesia, primary, 10 | AR |
| DNAAF3 | 614566 | Ciliary dyskinesia, primary, 2 | AR |
| DNAAF4 | 608706 | Dyslexia, susceptibility to, 1 | AD |
| Ciliary dyskinesia, primary, 25 | AR | ||
| DNAAF5 | 614864 | Ciliary dyskinesia, primary, 18 | AR |
| DNAAF6 | 300933 | Ciliary dyskinesia, primary, 36, X-linked | XLR |
| DNAH11 | 603339 | Ciliary dyskinesia, primary, 7, with or without situs inversus | AR |
| DNAH5 | 603335 | Ciliary dyskinesia, primary, 3, with or without situs inversus | AR |
| DNAH9 | 603330 | Ciliary dyskinesia, primary, 40 | AR |
| DNAI1 | 604366 | Ciliary dyskinesia, primary, 1, with or without situs inversus | AR |
| DNAI2 | 605483 | Ciliary dyskinesia, primary, 9, with or without situs inversus | AR |
| DNAL1 | 610062 | Ciliary dyskinesia, primary, 16 | AR |
| DUSP6 | 602748 | Hypogonadotropic hypogonadism 19 with or without anosmia | AD |
| DYNC2H1 | 603297 | Short-rib thoracic dysplasia 3 with or without polydactyly | AR, DR |
| DYNC2I1 | 615462 | Short-rib thoracic dysplasia 8 with or without polydactyly | AR |
| EFNB1 | 300035 | Craniofrontonasal dysplasia | XLD |
| ENPP1 | 173335 | Arterial calcification, generalized, of infancy, 1 | AR |
| Obesity, susceptibility to | AD, AR, MF | ||
| Hypophosphatemic rickets, autosomal recessive, 2 | AR | ||
| Cole disease | AD | ||
| Diabetes mellitus, non-insulin-dependent, susceptibility to | AD | ||
| EPG5 | 615068 | Vici syndrome | AR |
| ERAL1 | 607435 | Perrault syndrome 6 | AR |
| ESCO2 | 609353 | Roberts syndrome | AR |
| Juberg-Hayward syndrome | AR | ||
| SC phocomelia syndrome | AR | ||
| EVC | 604831 | Ellis-van Creveld syndrome | AR |
| ?Weyers acrofacial dysostosis | AD | ||
| EVC2 | 607261 | Ellis-van Creveld syndrome | AR |
| Weyers acrofacial dysostosis | AD | ||
| FAT4 | 612411 | Hennekam lymphangiectasia-lymphedema syndrome 2 | AR |
| Van Maldergem syndrome 2 | AR | ||
| FBXL4 | 605654 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | AR |
| FEZF1 | 613301 | Hypogonadotropic hypogonadism 22, with or without anosmia | AR |
| FGF10 | 602115 | Aplasia of lacrimal and salivary glands | AD |
| LADD syndrome | AD | ||
| FGF17 | 603725 | Hypogonadotropic hypogonadism 20 with or without anosmia | AD |
| FGF8 | 600483 | Hypogonadotropic hypogonadism 6 with or without anosmia | AD |
| FGFR1 | 136350 | Osteoglophonic dysplasia | AD |
| Trigonocephaly 1 | AD | ||
| Pfeiffer syndrome | AD | ||
| Encephalocraniocutaneous lipomatosis, somatic mosaic | - | ||
| Hypogonadotropic hypogonadism 2 with or without anosmia | AD | ||
| Jackson-Weiss syndrome | AD | ||
| Hartsfield syndrome | AD | ||
| FGFR2 | 176943 | Crouzon syndrome | AD |
| Saethre-Chotzen syndrome | AD | ||
| Craniofacial-skeletal-dermatologic dysplasia | AD | ||
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | AD | ||
| Gastric cancer, somatic | - | ||
| LADD syndrome | AD | ||
| Beare-Stevenson cutis gyrata syndrome | AD | ||
| Scaphocephaly, maxillary retrusion, and mental retardation | - | ||
| Apert syndrome | AD | ||
| Bent bone dysplasia syndrome | AD | ||
| Pfeiffer syndrome | AD | ||
| Jackson-Weiss syndrome | AD | ||
| FGFR3 | 134934 | Achondroplasia | AD |
| CATSHL syndrome | AD, AR | ||
| Thanatophoric dysplasia, type I | AD | ||
| Bladder cancer, somatic | - | ||
| Hypochondroplasia | AD | ||
| SADDAN | AD | ||
| Colorectal cancer, somatic | - | ||
| Crouzon syndrome with acanthosis nigricans | AD | ||
| Cervical cancer, somatic | - | ||
| Nevus, epidermal, somatic | - | ||
| Thanatophoric dysplasia, type II | AD | ||
| Spermatocytic seminoma, somatic | - | ||
| Muenke syndrome | AD | ||
| LADD syndrome | AD | ||
| FIG4 | 609390 | Amyotrophic lateral sclerosis 11 | AD |
| Yunis-Varon syndrome | AR | ||
| Charcot-Marie-Tooth disease, type 4J | AR | ||
| ?Polymicrogyria, bilateral temporooccipital | AR | ||
| FLNA | 300017 | Frontometaphyseal dysplasia 1 | XLR |
| Heterotopia, periventricular, 1 | XLD | ||
| Terminal osseous dysplasia | XLD | ||
| Congenital short bowel syndrome | XLR | ||
| Otopalatodigital syndrome, type II | XLD | ||
| Melnick-Needles syndrome | XLD | ||
| Cardiac valvular dysplasia, X-linked | XL | ||
| Intestinal pseudoobstruction, neuronal | XLR | ||
| ?FG syndrome 2 | XL | ||
| Otopalatodigital syndrome, type I | XLD | ||
| FLRT3 | 604808 | Hypogonadotropic hypogonadism 21 with anosmia | AD |
| FMR1 | 309550 | Premature ovarian failure 1 | XL |
| Fragile X syndrome | XLD | ||
| Fragile X tremor/ataxia syndrome | XLD | ||
| FOXJ1 | 602291 | Ciliary dyskinesia, primary, 43 | AD |
| FOXL2 | 605597 | Blepharophimosis, epicanthus inversus, and ptosis, type 1 | AD, AR |
| Blepharophimosis, epicanthus inversus, and ptosis, type 2 | AD, AR | ||
| Premature ovarian failure 3 | AD | ||
| FRAS1 | 607830 | Fraser syndrome 1 | AR |
| FREM2 | 608945 | Fraser syndrome 2 | AR |
| Cryptophthalmos, unilateral or bilateral, isolated | AR | ||
| FSHB | 136530 | Hypogonadotropic hypogonadism 24 without anosmia | AR |
| FSHR | 136435 | Ovarian dysgenesis 1 | AR |
| Ovarian response to FSH stimulation | AR | ||
| Ovarian hyperstimulation syndrome | AD | ||
| GAS8 | 605178 | Ciliary dyskinesia, primary, 33 | AR |
| GATA4 | 600576 | Atrioventricular septal defect 4 | AD |
| ?Testicular anomalies with or without congenital heart disease | AD | ||
| Ventricular septal defect 1 | AD | ||
| Tetralogy of Fallot | AD | ||
| Atrial septal defect 2 | AD | ||
| GLI3 | 165240 | Pallister-Hall syndrome | AD |
| Polydactyly, preaxial, type IV | AD | ||
| Polydactyly, postaxial, types A1 and B | AD | ||
| Greig cephalopolysyndactyly syndrome | AD | ||
| GNRH1 | 152760 | ?Hypogonadotropic hypogonadism 12 with or without anosmia | AR |
| GNRHR | 138850 | Hypogonadotropic hypogonadism 7 without anosmia | AR |
| GPC3 | 300037 | Simpson-Golabi-Behmel syndrome, type 1 | XLR |
| Wilms tumor, somatic | - | ||
| GRIP1 | 604597 | Fraser syndrome 3 | AR |
| HBA1 | 141800 | Methemoglobinemia, alpha type | AD |
| Heinz body anemias, alpha- | AD | ||
| Erythrocytosis 7 | AD | ||
| Thalassemias, alpha- | - | ||
| Hemoglobin H disease, nondeletional | - | ||
| HCCS | 300056 | Linear skin defects with multiple congenital anomalies 1 | XLD |
| HESX1 | 601802 | Septooptic dysplasia | AD, AR |
| Pituitary hormone deficiency, combined, 5 | AD, AR | ||
| Growth hormone deficiency with pituitary anomalies | AD, AR | ||
| HEXA | 606869 | Tay-Sachs disease | AR |
| [Hex A pseudodeficiency] | AR | ||
| GM2-gangliosidosis, several forms | AR | ||
| HFE | 613609 | Porphyria variegata, susceptibility to | AD |
| Alzheimer disease, susceptibility to | AD | ||
| Hemochromatosis | AR | ||
| [Transferrin serum level QTL2] | - | ||
| Porphyria cutanea tarda, susceptibility to | AD, AR | ||
| Microvascular complications of diabetes 7 | - | ||
| HNF1B | 189907 | Renal cysts and diabetes syndrome | AD |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| Renal cell carcinoma | - | ||
| HOXA13 | 142959 | ?Guttmacher syndrome | AD |
| Hand-foot-uterus syndrome | AD | ||
| HS6ST1 | 604846 | Hypogonadotropic hypogonadism 15 with or without anosmia | AD |
| HSD17B3 | 605573 | Pseudohermaphroditism, male, with gynecomastia | AR |
| HSD17B4 | 601860 | Perrault syndrome 1 | AR |
| D-bifunctional protein deficiency | AR | ||
| HSD3B2 | 613890 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR |
| HUWE1 | 300697 | Mental retardation, X-linked syndromic, Turner type | XL |
| IFT172 | 607386 | Retinitis pigmentosa 71 | AR |
| Bardet-Biedl syndrome 20 | AR | ||
| Short-rib thoracic dysplasia 10 with or without polydactyly | AR | ||
| IFT27 | 615870 | ?Bardet-Biedl syndrome 19 | AR |
| IL17RD | 606807 | Hypogonadotropic hypogonadism 18 with or without anosmia | AD, AR, DD |
| INPP5E | 613037 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
| Joubert syndrome 1 | AR | ||
| INSL3 | 146738 | Cryptorchidism | AD |
| IRF6 | 607199 | Orofacial cleft 6 | AD |
| van der Woude syndrome | AD | ||
| Popliteal pterygium syndrome 1 | AD | ||
| KHDC3L | 611687 | Hydatidiform mole, recurrent, 2 | AR |
| KIF7 | 611254 | Joubert syndrome 12 | AR |
| ?Hydrolethalus syndrome 2 | AR | ||
| ?Al-Gazali-Bakalinova syndrome | AR | ||
| Acrocallosal syndrome | AR | ||
| KISS1 | 603286 | ?Hypogonadotropic hypogonadism 13 with or without anosmia | AR |
| KISS1R | 604161 | ?Precocious puberty, central, 1 | AD |
| Hypogonadotropic hypogonadism 8 with or without anosmia | AR | ||
| LEP | 164160 | Obesity, morbid, due to leptin deficiency | AR |
| LEPR | 601007 | Obesity, morbid, due to leptin receptor deficiency | AR |
| LHB | 152780 | Hypogonadotropic hypogonadism 23 with or without anosmia | AR |
| LHCGR | 152790 | Leydig cell hypoplasia with pseudohermaphroditism | AR |
| Leydig cell adenoma, somatic, with precocious puberty | - | ||
| Precocious puberty, male | AD | ||
| Leydig cell hypoplasia with hypergonadotropic hypogonadism | AR | ||
| Luteinizing hormone resistance, female | AR | ||
| LHX3 | 600577 | Pituitary hormone deficiency, combined, 3 | AR |
| LHX4 | 602146 | Pituitary hormone deficiency, combined, 4 | AD |
| LMNA | 150330 | Restrictive dermopathy 2 | - |
| Malouf syndrome | AD | ||
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | AR | ||
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | AD | ||
| Hutchinson-Gilford progeria | AD | ||
| Muscular dystrophy, congenital | AD | ||
| Restrictive dermopathy, lethal | AR | ||
| Lipodystrophy, familial partial, type 2 | AD | ||
| Charcot-Marie-Tooth disease, type 2B1 | AR | ||
| Mandibuloacral dysplasia | AR | ||
| Cardiomyopathy, dilated, 1A | AD | ||
| Heart-hand syndrome, Slovenian type | AD | ||
| LRRC56 | 618227 | Ciliary dyskinesia, primary, 39 | AR |
| LZTFL1 | 606568 | Bardet-Biedl syndrome 17 | AR |
| MAMLD1 | 300120 | Hypospadias 2, X-linked | XLR |
| MAP3K1 | 600982 | 46XY sex reversal 6 | AD |
| MCM9 | 610098 | Ovarian dysgenesis 4 | AR |
| MED12 | 300188 | Opitz-Kaveggia syndrome | XLR |
| Lujan-Fryns syndrome | XLR | ||
| Ohdo syndrome, X-linked | XLR | ||
| Hardikar syndrome | XLD | ||
| MID1 | - | Opitz GBBB syndrome, type I | XLR |
| MKKS | 604896 | McKusick-Kaufman syndrome | AR |
| Bardet-Biedl syndrome 6 | AR | ||
| MKS1 | 609883 | Bardet-Biedl syndrome 13 | AR |
| Joubert syndrome 28 | AR | ||
| Meckel syndrome 1 | AR | ||
| MYO7A | 276903 | Deafness, autosomal dominant 11 | AD |
| Usher syndrome, type 1B | AR | ||
| Deafness, autosomal recessive 2 | AR | ||
| MYRF | 608329 | Encephalitis/encephalopathy, mild, with reversible myelin vacuolization | AD |
| Cardiac-urogenital syndrome | AD | ||
| NEK1 | 604588 | Short-rib thoracic dysplasia 6 with or without polydactyly | AR, DR |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | AD | ||
| NEK10 | 618726 | Ciliary dyskinesia, primary, 44 | AR |
| NME8 | 607421 | Ciliary dyskinesia, primary, 6 | AR |
| NPHP1 | 607100 | Joubert syndrome 4 | AR |
| Nephronophthisis 1, juvenile | AR | ||
| Senior-Loken syndrome-1 | AR | ||
| NPHP3 | 608002 | Nephronophthisis 3 | AR |
| Meckel syndrome 7 | AR | ||
| Renal-hepatic-pancreatic dysplasia 1 | AR | ||
| NR0B1 | - | Adrenal hypoplasia, congenital | XLR |
| 46XY sex reversal 2, dosage-sensitive | XL | ||
| NR0B2 | 604630 | Obesity, mild, early-onset | AD, AR, MF |
| NR3C1 | 138040 | Glucocorticoid resistance | AD |
| NR5A1 | 184757 | 46, XX sex reversal 4 | AD |
| Adrenocortical insufficiency | AD | ||
| 46XY sex reversal 3 | AD | ||
| Premature ovarian failure 7 | AD | ||
| Spermatogenic failure 8 | AD | ||
| NSMF | - | Hypogonadotropic hypogonadism 9 with or without anosmia | AD |
| ODAD1 | 615038 | Ciliary dyskinesia, primary, 20 | AR |
| ODAD2 | 615408 | Ciliary dyskinesia, primary, 23 | AR |
| ODAD3 | 615956 | Ciliary dyskinesia, primary, 30 | AR |
| ODAD4 | 617095 | Ciliary dyskinesia, primary, 35 | AR |
| OFD1 | 300170 | Joubert syndrome 10 | XLR |
| Simpson-Golabi-Behmel syndrome, type 2 | XLR | ||
| ?Retinitis pigmentosa 23 | XLR | ||
| Orofaciodigital syndrome I | XLD | ||
| OPHN1 | 300127 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | XLR |
| PANX1 | 608420 | Oocyte maturation defect 7 | AD |
| PATL2 | 614661 | Oocyte maturation defect 4 | AR |
| PAX6 | 607108 | ?Coloboma, ocular | AD |
| Aniridia | AD | ||
| ?Morning glory disc anomaly | AD | ||
| Keratitis | AD | ||
| Optic nerve hypoplasia | AD | ||
| ?Coloboma of optic nerve | AD | ||
| Anterior segment dysgenesis 5, multiple subtypes | AD | ||
| Cataract with late-onset corneal dystrophy | AD | ||
| Foveal hypoplasia 1 | AD | ||
| PCNT | 605925 | Microcephalic osteodysplastic primordial dwarfism, type II | AR |
| PCSK1 | 162150 | Obesity with impaired prohormone processing | AR |
| Obesity, susceptibility to, BMIQ12 | - | ||
| PDE4D | 600129 | Acrodysostosis 2, with or without hormone resistance | AD |
| PEX1 | 602136 | Peroxisome biogenesis disorder 1A (Zellweger) | AR |
| Peroxisome biogenesis disorder 1B (NALD/IRD) | AR | ||
| Heimler syndrome 1 | AR | ||
| PHF6 | 300414 | Borjeson-Forssman-Lehmann syndrome | XLR |
| PITX2 | 601542 | Anterior segment dysgenesis 4 | AD |
| Ring dermoid of cornea | AD | ||
| Axenfeld-Rieger syndrome, type 1 | AD | ||
| PLCZ1 | - | Spermatogenic failure 17 | AR |
| PNPLA6 | 603197 | Spastic paraplegia 39, autosomal recessive | AR |
| Boucher-Neuhauser syndrome | AR | ||
| Oliver-McFarlane syndrome | AR | ||
| ?Laurence-Moon syndrome | AR | ||
| POLR3B | 614366 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | AR |
| Charcot-Marie-Tooth disease, demyelinating, type 1I | AD | ||
| POMC | 176830 | Obesity, adrenal insufficiency, and red hair due to POMC deficiency | AR |
| Obesity, early-onset, susceptibility to | AD, AR, MF | ||
| POR | 124015 | Disordered steroidogenesis due to cytochrome P450 oxidoreductase | - |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | AR | ||
| POU1F1 | 173110 | Pituitary hormone deficiency, combined, 1 | AD, AR |
| PPARG | - | Carotid intimal medial thickness 1 | - |
| Obesity, severe | AD, AR, MF | ||
| Lipodystrophy, familial partial, type 3 | AD | ||
| Diabetes, type 2 | AD | ||
| Insulin resistance, severe, digenic | AD | ||
| PROK2 | 607002 | Hypogonadotropic hypogonadism 4 with or without anosmia | AD |
| PROKR2 | 607123 | Hypogonadotropic hypogonadism 3 with or without anosmia | AD |
| PROM1 | 604365 | Cone-rod dystrophy 12 | AD, AR |
| Macular dystrophy, retinal, 2 | AD | ||
| Retinitis pigmentosa 41 | AR | ||
| Stargardt disease 4 | AD | ||
| PROP1 | 601538 | Pituitary hormone deficiency, combined, 2 | AR |
| PRPH2 | 179605 | Retinitis pigmentosa 7 and digenic form | AD, AR, DD |
| Retinitis punctata albescens | AD, AR | ||
| Choroidal dystrophy, central areolar 2 | AD | ||
| Macular dystrophy, patterned, 1 | AD | ||
| Macular dystrophy, vitelliform, 3 | AD | ||
| Leber congenital amaurosis 18 | AD, AR, DD | ||
| PSMC3IP | 608665 | Ovarian dysgenesis 3 | AR |
| PTDSS1 | 612792 | Lenz-Majewski hyperostotic dwarfism | AD |
| PTPN11 | 176876 | Leukemia, juvenile myelomonocytic, somatic | - |
| LEOPARD syndrome 1 | AD | ||
| Metachondromatosis | AD | ||
| Noonan syndrome 1 | AD | ||
| RBBP8 | 604124 | Seckel syndrome 2 | AR |
| Jawad syndrome | AR | ||
| RDH5 | 601617 | Fundus albipunctatus | AD, AR |
| RHO | 180380 | Retinitis punctata albescens | AD, AR |
| Retinitis pigmentosa 4, autosomal dominant or recessive | AD, AR | ||
| Night blindness, congenital stationary, autosomal dominant 1 | - | ||
| RIPK4 | 605706 | Popliteal pterygium syndrome, Bartsocas-Papas type | AR |
| CHAND syndrome | AR | ||
| RLBP1 | 180090 | Newfoundland rod-cone dystrophy | - |
| Fundus albipunctatus | AD, AR | ||
| Retinitis punctata albescens | AD, AR | ||
| Bothnia retinal dystrophy | AR | ||
| RNF216 | 609948 | Cerebellar ataxia and hypogonadotropic hypogonadism | AR |
| ROR2 | 602337 | Brachydactyly, type B1 | AD |
| Robinow syndrome, autosomal recessive | AR | ||
| RPGRIP1L | 610937 | Joubert syndrome 7 | AR |
| ?COACH syndrome 3 | AR | ||
| Meckel syndrome 5 | AR | ||
| RPL10 | 312173 | Autism, susceptibility to, X-linked 5 | - |
| Mental retardation, X-linked, syndromic, 35 | XLR | ||
| RSPO1 | 609595 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal | AR |
| Palmoplantar hyperkeratosis and true hermaphroditism | AR | ||
| SALL1 | 602218 | Townes-Brocks branchiootorenal-like syndrome | AD |
| Townes-Brocks syndrome 1 | AD | ||
| SAMD9 | 610456 | Monosomy 7 myelodysplasia and leukemia syndrome 2 | AD |
| MIRAGE syndrome | AD | ||
| Tumoral calcinosis, familial, normophosphatemic | AR | ||
| SDCCAG8 | 613524 | Bardet-Biedl syndrome 16 | AR |
| Senior-Loken syndrome 7 | AR | ||
| SEMA3A | 603961 | Hypogonadotropic hypogonadism 16 with or without anosmia | AD |
| SETBP1 | 611060 | Schinzel-Giedion midface retraction syndrome | AD |
| Mental retardation, autosomal dominant 29 | AD | ||
| SGPL1 | 603729 | Nephrotic syndrome, type 14 | AR |
| SOS1 | 182530 | Noonan syndrome 4 | AD |
| ?Fibromatosis, gingival, 1 | AD | ||
| SOX10 | 602229 | Waardenburg syndrome, type 4C | AD |
| PCWH syndrome | AD | ||
| Waardenburg syndrome, type 2E, with or without neurologic involvement | AD | ||
| SOX2 | 184429 | Microphthalmia, syndromic 3 | AD |
| Optic nerve hypoplasia and abnormalities of the central nervous system | AD | ||
| SOX3 | 313430 | Panhypopituitarism, X-linked | XL |
| Mental retardation, X-linked, with isolated growth hormone deficiency | - | ||
| SOX9 | 608160 | Acampomelic campomelic dysplasia | AD |
| Campomelic dysplasia | AD | ||
| Campomelic dysplasia with autosomal sex reversal | AD | ||
| SPAG1 | 603395 | Ciliary dyskinesia, primary, 28 | AR |
| SPECC1L | 614140 | Opitz GBBB syndrome, type II | AD |
| ?Facial clefting, oblique, 1 | AD | ||
| Hypertelorism, Teebi type | AD | ||
| SPRY4 | 607984 | Hypogonadotropic hypogonadism 17 with or without anosmia | AD |
| SRY | 480000 | 46XX sex reversal 1 | XLD |
| 46XY sex reversal 1 | Y-linked | ||
| STAR | 600617 | Lipoid adrenal hyperplasia | AR |
| TAC3 | 162330 | Hypogonadotropic hypogonadism 10 with or without anosmia | AR |
| TACR3 | 162332 | Hypogonadotropic hypogonadism 11 with or without anosmia | AR |
| TBX15 | 604127 | Cousin syndrome | AR |
| TEX11 | 300311 | Spermatogenic failure, X-linked, 2 | XLR |
| TEX15 | 605795 | Spermatogenic failure 25 | AR |
| TLE6 | 612399 | Preimplantation embryonic lethality | AR |
| TMEM67 | 609884 | COACH syndrome 1 | AR |
| ?RHYNS syndrome | AR | ||
| Meckel syndrome 3 | AR | ||
| Joubert syndrome 6 | AR | ||
| Bardet-Biedl syndrome 14, modifier of | AR | ||
| Nephronophthisis 11 | AR | ||
| TMEM70 | 612418 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | AR |
| TOE1 | 613931 | Pontocerebellar hypoplasia, type 7 | AR |
| TP63 | 603273 | Rapp-Hodgkin syndrome | AD |
| Orofacial cleft 8 | - | ||
| Limb-mammary syndrome | AD | ||
| Split-hand/foot malformation 4 | AD | ||
| Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | AD | ||
| Hay-Wells syndrome | AD | ||
| ADULT syndrome | AD | ||
| TRAF3IP1 | 607380 | Senior-Loken syndrome 9 | AR |
| TRAIP | 605958 | Seckel syndrome 9 | AR |
| TRIM32 | 602290 | Muscular dystrophy, limb-girdle, autosomal recessive 8 | AR |
| ?Bardet-Biedl syndrome 11 | AR | ||
| TSPYL1 | 604714 | Sudden infant death with dysgenesis of the testes syndrome | AR |
| TTC12 | 610732 | Ciliary dyskinesia, primary, 45 | AR |
| TTC21B | 612014 | Short-rib thoracic dysplasia 4 with or without polydactyly | AR |
| Nephronophthisis 12 | AD, AR | ||
| TTC8 | - | Bardet-Biedl syndrome 8 | AR |
| ?Retinitis pigmentosa 51 | AR | ||
| TUBB8 | 616768 | Oocyte maturation defect 2 | AD, AR |
| TWIST2 | 607556 | Ablepharon-macrostomia syndrome | AD |
| Focal facial dermal dysplasia 3, Setleis type | AR | ||
| Barber-Say syndrome | AD | ||
| UBR1 | 605981 | Johanson-Blizzard syndrome | AR |
| USP9Y | 400005 | Spermatogenic failure, Y-linked, 2 | Y-linked |
| WDPCP | 613580 | Congenital heart defects, hamartomas of tongue, and polysyndactyly | AR |
| ?Bardet-Biedl syndrome 15 | AR | ||
| WDR11 | 606417 | Hypogonadotropic hypogonadism 14 with or without anosmia | AD |
| WDR35 | 613602 | Cranioectodermal dysplasia 2 | AR |
| Short-rib thoracic dysplasia 7 with or without polydactyly | AR | ||
| WEE2 | 614084 | Oocyte maturation defect 5 | AR |
| WNT4 | 603490 | Mullerian aplasia and hyperandrogenism | AD |
| ?SERKAL syndrome | AR | ||
| ZMYND10 | 607070 | Ciliary dyskinesia, primary, 22 | AR |
| ZP1 | 195000 | Oocyte maturation defect 1 | AR |
| ZP2 | 182888 | Oocyte maturation defect 6 | AR |
| ZP3 | 182889 | Oocyte maturation defect 3 | AD |
COMMON SYNDROMES AND DISORDERS COVERED
- CFTR-associated infertility
- Hypogonadotropic hypogonadism
- Klinefelter syndrome
- Monogenic causes of male infertility
- Primary ciliary dyskinesia
- Spermatogenic failure
- Y chromosome microdeletions
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