Immunology
Diagnosing immune-related disorders precisely can provide life-changing treatment and options to better manage disease. By leveraging our robust and comprehensive rare disease-centric Bio/Databank, we carefully curate and document all variants that clinically correlate to symptoms – providing a comprehensive diagnosis of immune-related diseases.
Bone marrow failure / Anemia panel
Our bone marrow failure / Anemia panel is intended for patients with abnormalities in more than two blood cell types (red blood cell, white blood cell, and platelets) who present symptoms of lethargy, recurrent infections, excessive bleeding, abnormal pigmentation, enlarged spleen, and malignancies. Some specific disorders detected with this panel are hemophagocytic lymphohistiocytosis, Seckel syndrome, thrombocytopenia, Fanconi anemia, dyskeratosis congenita, Shwachman Diamond syndrome as well as other types of anemias, such as thalassemia alpha and beta, sickle cell disease, spherocytosis, megaloblastic anemia, congenital sideroblastic, and dyserythropoietic anemia.
| No. of genes: | 214 |
|---|---|
| TAT: | 25 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCB6 | 605452 | Microphthalmia, isolated, with coloboma 7 | AD |
| [Blood group, Langereis system] | - | ||
| Dyschromatosis universalis hereditaria 3 | AD | ||
| Pseudohyperkalemia, familial, 2, due to red cell leak | AD | ||
| ABCB7 | 300135 | Anemia, sideroblastic, with ataxia | XLR |
| ABCG5 | 605459 | Sitosterolemia 2 | AR |
| ABCG8 | 605460 | Gallbladder disease 4 | - |
| Sitosterolemia 1 | AR | ||
| ACD | 609377 | ?Dyskeratosis congenita, autosomal dominant 6 | AD, AR |
| ?Dyskeratosis congenita, autosomal recessive 7 | AD, AR | ||
| ACTN1 | 102575 | Bleeding disorder, platelet-type, 15 | AD |
| ADA | 608958 | Adenosine deaminase deficiency, partial | AR, Somatic mosaicism |
| Severe combined immunodeficiency due to ADA deficiency | AR, Somatic mosaicism | ||
| ADA2 | 607575 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | AR |
| ?Sneddon syndrome | AR | ||
| ADAMTS13 | 604134 | Thrombotic thrombocytopenic purpura, hereditary | AR |
| AK1 | 103000 | Hemolytic anemia due to adenylate kinase deficiency | AR |
| AK2 | 103020 | Reticular dysgenesis | AR |
| ALAS2 | 301300 | Protoporphyria, erythropoietic, X-linked | XL |
| Anemia, sideroblastic, 1 | XLR | ||
| ALDOA | 103850 | Glycogen storage disease XII | AR |
| AMMECR1 | 300195 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | XLR |
| AMN | 605799 | Imerslund-Grasbeck syndrome 2 | AR |
| ANK1 | 612641 | Spherocytosis, type 1 | AD, AR |
| ANKRD26 | 610855 | Thrombocytopenia 2 | AD |
| AP3B1 | 603401 | Hermansky-Pudlak syndrome 2 | AR |
| ATM | 607585 | Breast cancer, susceptibility to | AD, SM |
| Ataxia-telangiectasia | AR | ||
| ATRX | 300032 | Mental retardation-hypotonic facies syndrome, X-linked | XLR |
| Alpha-thalassemia/mental retardation syndrome | XLD | ||
| Alpha-thalassemia myelodysplasia syndrome, somatic | - | ||
| BLM | 604610 | Bloom syndrome | AR |
| BLOC1S3 | 609762 | Hermansky-Pudlak syndrome 8 | AR |
| BRCA1 | 113705 | Breast-ovarian cancer, familial, 1 | AD, MF |
| Pancreatic cancer, susceptibility to, 4 | - | ||
| Fanconi anemia, complementation group S | AR | ||
| BRCA2 | 600185 | Prostate cancer | AD, SM |
| Breast-ovarian cancer, familial, 2 | AD | ||
| Glioblastoma 3 | AR | ||
| Wilms tumor | AD, SM | ||
| Pancreatic cancer 2 | - | ||
| Breast cancer, male, susceptibility to | AD, SM | ||
| Fanconi anemia, complementation group D1 | AR | ||
| Medulloblastoma | AD, AR, SM | ||
| BRIP1 | 605882 | Fanconi anemia, complementation group J | - |
| Breast cancer, early-onset, susceptibility to | AD, SM | ||
| CASP10 | 601762 | Autoimmune lymphoproliferative syndrome, type II | AD |
| Gastric cancer, somatic | - | ||
| Lymphoma, non-Hodgkin, somatic | - | ||
| CBL | 165360 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | AD |
| ?Juvenile myelomonocytic leukemia | AD, SM | ||
| CBLIF | 609342 | Intrinsic factor deficiency | AR |
| CD36 | 173510 | Malaria, cerebral, reduced risk of | - |
| Coronary heart disease, susceptibility to, 7 | - | ||
| Platelet glycoprotein IV deficiency | AR | ||
| Malaria, cerebral, susceptibility to | - | ||
| CD40LG | 300386 | Immunodeficiency, X-linked, with hyper-IgM | XLR |
| CD59 | 107271 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy | AR |
| CDAN1 | 607465 | Dyserythropoietic anemia, congenital, type Ia | AR |
| CDC42 | 116952 | Takenouchi-Kosaki syndrome | AD |
| CDIN1 | 615626 | Dyserythropoietic anemia, congenital, type Ib | AR |
| CENPJ | 609279 | ?Seckel syndrome 4 | AR |
| Microcephaly 6, primary, autosomal recessive | AR | ||
| CEP152 | 613529 | Microcephaly 9, primary, autosomal recessive | AR |
| Seckel syndrome 5 | AR | ||
| CHEK2 | 604373 | Prostate cancer, familial, susceptibility to | AD, SM |
| Colorectal cancer, susceptibility to | AD, SM | ||
| Breast cancer, susceptibility to | AD, SM | ||
| Osteosarcoma, somatic | - | ||
| Li-Fraumeni syndrome | - | ||
| CLCN7 | 602727 | Osteopetrosis, autosomal recessive 4 | AR |
| Osteopetrosis, autosomal dominant 2 | AD | ||
| Hypopigmentation, organomegaly, and delayed myelination and development | AD | ||
| CLPB | 616254 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia | AR |
| 3-methylglutaconic aciduria, type VIIA, autosomal dominant | AD | ||
| Neutropenia, severe congenital, 9, autosomal dominant | AD | ||
| COL4A1 | 120130 | ?Retinal arteries, tortuosity of | AD |
| Hemorrhage, intracerebral, susceptibility to | - | ||
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | AD | ||
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | AD | ||
| Brain small vessel disease with or without ocular anomalies | AD | ||
| CSF3R | 138971 | Neutropenia, severe congenital, 7, autosomal recessive | AR |
| ?Neutrophilia, hereditary | AD | ||
| CTC1 | 613129 | Cerebroretinal microangiopathy with calcifications and cysts | AR |
| CTLA4 | 123890 | Systemic lupus erythematosus, susceptibility to | AD |
| Autoimmune lymphoproliferative syndrome, type V | AD | ||
| Celiac disease, susceptibility to, 3 | - | ||
| Hashimoto thyroiditis | AD | ||
| Diabetes mellitus, insulin-dependent, 12 | - | ||
| CUBN | 602997 | [Proteinuria, chronic benign] | AR |
| Imerslund-Grasbeck syndrome 1 | AR | ||
| CXCR4 | 162643 | WHIM syndrome | AD |
| CYB5R3 | 613213 | Methemoglobinemia, type I | AR |
| Methemoglobinemia, type II | AR | ||
| CYCS | 123970 | Thrombocytopenia 4 | AD |
| DHFR | 126060 | Megaloblastic anemia due to dihydrofolate reductase deficiency | AR |
| DIAPH1 | 602121 | Seizures, cortical blindness, microcephaly syndrome | AR |
| Deafness, autosomal dominant 1, with or without thrombocytopenia | AD | ||
| DKC1 | 300126 | Dyskeratosis congenita, X-linked | XLR |
| DNAJC21 | 617048 | Bone marrow failure syndrome 3 | AR |
| DTNBP1 | 607145 | Hermansky-Pudlak syndrome 7 | AR |
| EFL1 | 617538 | Shwachman-Diamond syndrome 2 | AR |
| ELANE | 130130 | Neutropenia, cyclic | AD |
| Neutropenia, severe congenital 1, autosomal dominant | AD | ||
| EPB41 | 130500 | Elliptocytosis-1 | AD, AR |
| EPB42 | 177070 | Spherocytosis, type 5 | - |
| ERCC4 | 133520 | XFE progeroid syndrome | AR |
| Xeroderma pigmentosum, type F/Cockayne syndrome | AR | ||
| Xeroderma pigmentosum, group F | AR | ||
| Fanconi anemia, complementation group Q | AR | ||
| ETV6 | 600618 | Leukemia, acute myeloid, somatic | - |
| Thrombocytopenia 5 | AD | ||
| FANCA | 607139 | Fanconi anemia, complementation group A | AR |
| FANCB | - | Fanconi anemia, complementation group B | XLR |
| FANCC | 613899 | Fanconi anemia, complementation group C | AR |
| FANCD2 | 613984 | Fanconi anemia, complementation group D2 | AR |
| FANCE | 613976 | Fanconi anemia, complementation group E | AR |
| FANCF | 613897 | Fanconi anemia, complementation group F | AR |
| FANCG | 602956 | Fanconi anemia, complementation group G | AR |
| FANCI | 611360 | Fanconi anemia, complementation group I | AR |
| FANCL | - | Fanconi anemia, complementation group L | AR |
| FANCM | 609644 | Spermatogenic failure 28 | AR |
| ?Premature ovarian failure 15 | AR | ||
| FAS | 134637 | Autoimmune lymphoproliferative syndrome, type IA | AD |
| Autoimmune lymphoproliferative syndrome | AD | ||
| FASLG | 134638 | Autoimmune lymphoproliferative syndrome, type IB | AD |
| Lung cancer, susceptibility to | AD, SM | ||
| FLI1 | 193067 | Bleeding disorder, platelet-type, 21 | AD, AR |
| G6PC3 | 611045 | Dursun syndrome | AR |
| Neutropenia, severe congenital 4, autosomal recessive | AR | ||
| G6PD | 305900 | Resistance to malaria due to G6PD deficiency | - |
| Hemolytic anemia, G6PD deficient (favism) | XLD | ||
| GATA1 | 305371 | Thrombocytopenia with beta-thalassemia, X-linked | XLR |
| Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | XLR | ||
| Anemia, X-linked, with/without neutropenia and/or platelet abnormalities | XLR | ||
| Leukemia, megakaryoblastic, with or without Down syndrome, somatic | - | ||
| Hemolytic anemia due to elevated adenosine deaminase | - | ||
| GATA2 | 137295 | Myelodysplastic syndrome, susceptibility to | - |
| Leukemia, acute myeloid, susceptibility to | AD, SM | ||
| Emberger syndrome | AD | ||
| Immunodeficiency 21 | AD | ||
| GCLC | 606857 | Myocardial infarction, susceptibility to | - |
| Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency | AR | ||
| GFI1 | 600871 | Neutropenia, severe congenital 2, autosomal dominant | AD |
| ?Neutropenia, nonimmune chronic idiopathic, of adults | AD | ||
| GFI1B | 604383 | Bleeding disorder, platelet-type, 17 | AD, AR |
| GLRX5 | 609588 | Spasticity, childhood-onset, with hyperglycinemia | AR |
| Anemia, sideroblastic, 3, pyridoxine-refractory | AR | ||
| GNE | 603824 | Nonaka myopathy | AR |
| Sialuria | AD | ||
| GP1BA | 606672 | Bernard-Soulier syndrome, type A1 (recessive) | AR |
| von Willebrand disease, platelet-type | AD | ||
| Bernard-Soulier syndrome, type A2 (dominant) | AD | ||
| Nonarteritic anterior ischemic optic neuropathy, susceptibility to | AR | ||
| GP1BB | 138720 | Giant platelet disorder, isolated | AR |
| Bernard-Soulier syndrome, type B | AR | ||
| GP9 | 173515 | Bernard-Soulier syndrome, type C | AR |
| GPI | 172400 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | AR |
| GPX1 | 138320 | Hemolytic anemia due to glutathione peroxidase deficiency | AR |
| GSR | 138300 | Hemolytic anemia due to glutathione reductase deficiency | AR |
| GSS | 601002 | Glutathione synthetase deficiency | AR |
| Hemolytic anemia due to glutathione synthetase deficiency | AR | ||
| GYPC | 110750 | Malaria, resistance to | - |
| [Blood group, Gerbich] | - | ||
| 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 | ||
| 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 | - | ||
| HK1 | 142600 | Retinitis pigmentosa 79 | AD |
| Hemolytic anemia due to hexokinase deficiency | AR | ||
| Neurodevelopmental disorder with visual defects and brain anomalies | AD | ||
| Neuropathy, hereditary motor and sensory, Russe type | AR | ||
| HMOX1 | 141250 | Heme oxygenase-1 deficiency | AR |
| Pulmonary disease, chronic obstructive, susceptibility to | - | ||
| HOXA11 | 142958 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | AD |
| 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 |
| HSPA9 | 600548 | Even-plus syndrome | AR |
| Anemia, sideroblastic, 4 | AD | ||
| IKZF1 | 603023 | Immunodeficiency, common variable, 13 | AD |
| IL2RG | 308380 | Severe combined immunodeficiency, X-linked | XLR |
| Combined immunodeficiency, X-linked, moderate | XLR | ||
| ITGA2B | 607759 | Glanzmann thrombasthenia | AR |
| Bleeding disorder, platelet-type, 16, autosomal dominant | AD | ||
| ITGB3 | 173470 | Glanzmann thrombasthenia 2 | - |
| Glanzmann thrombasthenia | AR | ||
| Bleeding disorder, platelet-type, 16, autosomal dominant | AD | ||
| Myocardial infarction, susceptibility to | - | ||
| Bleeding disorder, platelet-type, 24, autosomal dominant | - | ||
| ITK | 186973 | Lymphoproliferative syndrome 1 | AR |
| JAGN1 | 616012 | Neutropenia, severe congenital, 6, autosomal recessive | AR |
| KCNN4 | 602754 | Dehydrated hereditary stomatocytosis 2 | AD |
| KDM1A | 609132 | Cleft palate, psychomotor retardation, and distinctive facial features | AD |
| KDSR | 136440 | Erythrokeratodermia variabilis et progressiva 4 | AR |
| KIT | 164920 | Gastrointestinal stromal tumor, familial | AD, IC |
| Germ cell tumors, somatic | - | ||
| Piebaldism | AD | ||
| Leukemia, acute myeloid, somatic | - | ||
| Mastocytosis, systemic, somatic | - | ||
| Mastocytosis, cutaneous | AD | ||
| KLF1 | 600599 | Dyserythropoietic anemia, congenital, type IV | AD |
| Blood group--Lutheran inhibitor | - | ||
| [Hereditary persistence of fetal hemoglobin] | - | ||
| KRAS | 190070 | Arteriovenous malformation of the brain, somatic | - |
| Gastric cancer, somatic | - | ||
| Oculoectodermal syndrome, somatic | - | ||
| RAS-associated autoimmune leukoproliferative disorder | AD | ||
| Gastric cancer, somatic | - | ||
| Pancreatic carcinoma, somatic | - | ||
| Lung cancer, somatic | - | ||
| Cardiofaciocutaneous syndrome 2 | AD | ||
| Bladder cancer, somatic | - | ||
| Leukemia, acute myeloid, somatic | - | ||
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - | ||
| Breast cancer, somatic | - | ||
| Noonan syndrome 3 | AD | ||
| LIG4 | 601837 | Multiple myeloma, resistance to | SM |
| LIG4 syndrome | AR | ||
| LPIN2 | 605519 | Majeed syndrome | - |
| LYST | 606897 | Chediak-Higashi syndrome | AR |
| MECOM | 165215 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | AD |
| MLH1 | 120436 | Mismatch repair cancer syndrome 1 | AR |
| Muir-Torre syndrome | AD | ||
| Colorectal cancer, hereditary nonpolyposis, type 2 | - | ||
| MPIG6B | 606520 | ?Thrombocytopenia, anemia, and myelofibrosis | AR |
| MPL | 159530 | Myelofibrosis with myeloid metaplasia, somatic | - |
| Thrombocytopenia, congenital amegakaryocytic | AR | ||
| Thrombocythemia 2 | AD, SM | ||
| MRE11 | 600814 | Ataxia-telangiectasia-like disorder 1 | AR |
| MSH2 | 609309 | Muir-Torre syndrome | AD |
| Colorectal cancer, hereditary nonpolyposis, type 1 | AD | ||
| Mismatch repair cancer syndrome 2 | AR | ||
| MSH6 | 600678 | Colorectal cancer, hereditary nonpolyposis, type 5 | AD |
| Endometrial cancer, familial | AD, SM | ||
| Mismatch repair cancer syndrome 3 | AR | ||
| MTR | 156570 | Neural tube defects, folate-sensitive, susceptibility to | AR |
| Homocystinuria-megaloblastic anemia, cblG complementation type | AR | ||
| MTRR | 602568 | Homocystinuria-megaloblastic anemia, cbl E type | AR |
| Neural tube defects, folate-sensitive, susceptibility to | AR | ||
| MYH9 | 160775 | Deafness, autosomal dominant 17 | AD |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | AD | ||
| MYSM1 | 612176 | Bone marrow failure syndrome 4 | AR |
| NBEAL2 | 614169 | Gray platelet syndrome | AR |
| NBN | 602667 | Aplastic anemia | - |
| Leukemia, acute lymphoblastic | - | ||
| Nijmegen breakage syndrome | AR | ||
| NF1 | 613113 | Watson syndrome | AD |
| Leukemia, juvenile myelomonocytic | AD, SM | ||
| Neurofibromatosis, type 1 | AD | ||
| Neurofibromatosis, familial spinal | AD | ||
| Neurofibromatosis-Noonan syndrome | AD | ||
| NFKB1 | 164011 | Immunodeficiency, common variable, 12 | AD |
| NHP2 | 606470 | Dyskeratosis congenita, autosomal recessive 2 | AR |
| NOP10 | 606471 | Dyskeratosis congenita, autosomal recessive 1 | AR |
| NRAS | 164790 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - |
| Colorectal cancer, somatic | - | ||
| Neurocutaneous melanosis, somatic | - | ||
| ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | - | ||
| Noonan syndrome 6 | AD | ||
| Melanocytic nevus syndrome, congenital, somatic | - | ||
| Thyroid carcinoma, follicular, somatic | - | ||
| Epidermal nevus, somatic | - | ||
| NT5C3A | 606224 | Anemia, hemolytic, due to UMPH1 deficiency | AR |
| PALB2 | 610355 | Pancreatic cancer, susceptibility to, 3 | - |
| Fanconi anemia, complementation group N | - | ||
| Breast cancer, susceptibility to | AD, SM | ||
| PARN | 604212 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 | AD |
| Dyskeratosis congenita, autosomal recessive 6 | AR | ||
| PC | 608786 | Pyruvate carboxylase deficiency | AR |
| PDHA1 | - | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
| PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
| PFKM | 610681 | Glycogen storage disease VII | AR |
| PGK1 | 311800 | Phosphoglycerate kinase 1 deficiency | XLR |
| PIEZO1 | 611184 | Lymphatic malformation 6 | AR |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | AD | ||
| PKLR | 609712 | Adenosine triphosphate, elevated, of erythrocytes | AD |
| Pyruvate kinase deficiency | AR | ||
| PLAU | 191840 | Quebec platelet disorder | AD |
| Alzheimer disease, late-onset, susceptibility to | AD | ||
| PMS2 | 600259 | Colorectal cancer, hereditary nonpolyposis, type 4 | - |
| Mismatch repair cancer syndrome 4 | AR | ||
| PRF1 | 170280 | Hemophagocytic lymphohistiocytosis, familial, 2 | AR |
| Lymphoma, non-Hodgkin | - | ||
| Aplastic anemia | - | ||
| PTPN11 | 176876 | Leukemia, juvenile myelomonocytic, somatic | - |
| LEOPARD syndrome 1 | AD | ||
| Metachondromatosis | AD | ||
| Noonan syndrome 1 | AD | ||
| PUS1 | - | Myopathy, lactic acidosis, and sideroblastic anemia 1 | AR |
| RAB27A | 603868 | Griscelli syndrome, type 2 | AR |
| RAC2 | 602049 | ?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia | AR |
| Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis | AD | ||
| Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia | AD | ||
| RAD51 | 179617 | Breast cancer, susceptibility to | AD, SM |
| Mirror movements 2 | AD | ||
| Fanconi anemia, complementation group R | AD | ||
| RAD51C | 602774 | Fanconi anemia, complementation group O | AR |
| Breast-ovarian cancer, familial, susceptibility to, 3 | - | ||
| RBBP8 | 604124 | Seckel syndrome 2 | AR |
| Jawad syndrome | AR | ||
| RBM8A | 605313 | Thrombocytopenia-absent radius syndrome | AR |
| REN | 179820 | Hyperuricemic nephropathy, familial juvenile 2 | AD |
| Renal tubular dysgenesis | AR | ||
| RHAG | 180297 | Overhydrated hereditary stomatocytosis | AD |
| Anemia, hemolytic, Rh-null, regulator type | AD | ||
| RIT1 | 609591 | Noonan syndrome 8 | AD |
| RPL11 | 604175 | Diamond-Blackfan anemia 7 | AD |
| RPL15 | 604174 | ?Diamond-Blackfan anemia 12 | AD |
| RPL35A | 180468 | Diamond-Blackfan anemia 5 | AD |
| RPL5 | 603634 | Diamond-Blackfan anemia 6 | AD |
| RPS10 | 603632 | Diamond-Blackfan anemia 9 | AD |
| RPS19 | 603474 | Diamond-Blackfan anemia 1 | AD |
| RPS24 | 602412 | Diamond-blackfan anemia 3 | AD |
| RPS26 | 603701 | Diamond-Blackfan anemia 10 | AD |
| RPS28 | 603685 | Diamond Blackfan anemia 15 with mandibulofacial dysostosis | AD |
| RPS29 | 603633 | Diamond-Blackfan anemia 13 | AD |
| RPS7 | 603658 | Diamond-Blackfan anemia 8 | AD |
| 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 | ||
| RUNX1 | 151385 | Leukemia, acute myeloid | AD, SM |
| Platelet disorder, familial, with associated myeloid malignancy | AD | ||
| SAMD9 | 610456 | Monosomy 7 myelodysplasia and leukemia syndrome 2 | AD |
| MIRAGE syndrome | AD | ||
| Tumoral calcinosis, familial, normophosphatemic | AR | ||
| SBDS | 607444 | Aplastic anemia, susceptibility to | - |
| Shwachman-Diamond syndrome | AR | ||
| SEC23B | 610512 | Dyserythropoietic anemia, congenital, type II | AR |
| ?Cowden syndrome 7 | AD | ||
| SH2D1A | - | Lymphoproliferative syndrome, X-linked, 1 | XLR |
| SLC19A2 | 603941 | Thiamine-responsive megaloblastic anemia syndrome | AR |
| SLC19A3 | 606152 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | AR |
| SLC25A19 | 606521 | Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) | AR |
| Microcephaly, Amish type | AR | ||
| SLC25A38 | 610819 | Anemia, sideroblastic, 2, pyridoxine-refractory | AR |
| SLC2A1 | 138140 | GLUT1 deficiency syndrome 2, childhood onset | AD |
| GLUT1 deficiency syndrome 1, infantile onset, severe | AD, AR | ||
| Epilepsy, idiopathic generalized, susceptibility to, 12 | AD | ||
| Stomatin-deficient cryohydrocytosis with neurologic defects | AD | ||
| Dystonia 9 | AD | ||
| SLC35C1 | 605881 | Congenital disorder of glycosylation, type IIc | AR |
| SLC4A1 | 109270 | [Blood group, Wright] | - |
| Distal renal tubular acidosis 1 | AD | ||
| Ovalocytosis, SA type | AD | ||
| [Malaria, resistance to] | - | ||
| [Blood group, Swann] | - | ||
| [Blood group, Froese] | - | ||
| [Blood group, Waldner] | - | ||
| Cryohydrocytosis | AD | ||
| [Blood group, Diego] | - | ||
| Distal renal tubular acidosis 4 with hemolytic anemia | AR | ||
| Spherocytosis, type 4 | AD | ||
| SLFN14 | 614958 | Bleeding disorder, platelet-type, 20 | AD |
| SLX4 | 613278 | Fanconi anemia, complementation group P | AR |
| SPTA1 | 182860 | Pyropoikilocytosis | AR |
| Elliptocytosis-2 | AD | ||
| Spherocytosis, type 3 | AR | ||
| SPTB | 182870 | Spherocytosis, type 2 | AD |
| Elliptocytosis-3 | - | ||
| Anemia, neonatal hemolytic, fatal or near-fatal | - | ||
| SRP72 | 602122 | Bone marrow failure syndrome 1 | AD |
| STAT3 | 102582 | Hyper-IgE recurrent infection syndrome | AD |
| Autoimmune disease, multisystem, infantile-onset, 1 | AD | ||
| STIM1 | 605921 | Myopathy, tubular aggregate, 1 | AD |
| Stormorken syndrome | AD | ||
| Immunodeficiency 10 | AR | ||
| STX11 | 605014 | Hemophagocytic lymphohistiocytosis, familial, 4 | AR |
| STXBP2 | 601717 | Hemophagocytic lymphohistiocytosis, familial, 5 | - |
| TCN2 | 613441 | Transcobalamin II deficiency | AR |
| TERT | 187270 | Melanoma, cutaneous malignant, 9 | - |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 | AD | ||
| Dyskeratosis congenita, autosomal dominant 2 | AD, AR | ||
| Leukemia, acute myeloid | AD, SM | ||
| Dyskeratosis congenita, autosomal recessive 4 | AD, AR | ||
| THPO | 600044 | Thrombocythemia 1 | AD |
| - | AR | ||
| TINF2 | 604319 | Revesz syndrome | AD |
| Dyskeratosis congenita, autosomal dominant 3 | AD | ||
| TMPRSS6 | 609862 | Iron-refractory iron deficiency anemia | AR |
| TP53 | 191170 | Hepatocellular carcinoma, somatic | - |
| Bone marrow failure syndrome 5 | AD | ||
| Basal cell carcinoma 7 | AD | ||
| Nasopharyngeal carcinoma, somatic | - | ||
| Choroid plexus papilloma | AD | ||
| Glioma susceptibility 1 | AD, SM | ||
| Pancreatic cancer, somatic | - | ||
| Breast cancer, somatic | - | ||
| Li-Fraumeni syndrome | AD | ||
| Adrenocortical carcinoma, pediatric | AD | ||
| Osteosarcoma | SM | ||
| Colorectal cancer | AD, SM | ||
| TPI1 | 190450 | Hemolytic anemia due to triosephosphate isomerase deficiency | AR |
| TPK1 | 606370 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | AR |
| TRNT1 | 612907 | Retinitis pigmentosa and erythrocytic microcytosis | AR |
| Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | AR | ||
| UBE2T | 610538 | Fanconi anemia, complementation group T | AR |
| UNC13D | 608897 | Hemophagocytic lymphohistiocytosis, familial, 3 | AR |
| VPS13B | 607817 | Cohen syndrome | AR |
| VPS45 | 610035 | Neutropenia, severe congenital, 5, autosomal recessive | AR |
| WAS | 300392 | Wiskott-Aldrich syndrome | XLR |
| Thrombocytopenia, X-linked | XLR | ||
| Neutropenia, severe congenital, X-linked | XLR | ||
| Thrombocytopenia, X-linked, intermittent | XLR | ||
| WNT4 | 603490 | Mullerian aplasia and hyperandrogenism | AD |
| ?SERKAL syndrome | AR | ||
| WRAP53 | 612661 | Dyskeratosis congenita, autosomal recessive 3 | AR |
| XIAP | 300079 | Lymphoproliferative syndrome, X-linked, 2 | XLR |
| XK | 314850 | McLeod syndrome with or without chronic granulomatous disease | XL |
| XRCC2 | 600375 | Spermatogenic failure | AR |
| ?Fanconi anemia, complementation group U | AR | ||
| ?Premature ovarian failure 17 | AR | ||
| YARS2 | 610957 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | AR |
COMMON SYNDROMES AND DISORDERS COVERED
- Bleeding disorders
- Bone marrow failure syndrome
- Congenital dyserythropoietic anemia
- Congenital sideroblastic anemia
- Diamond-Blackfan anemia
- Fanconi anemia
- Hemolytic anemias
- Hemophagocytic lymphohistiocytosis
- Hereditary spherocytosis
- Megaloblastic anemia
- Seckel syndrome
- Sitosterolemia
- Thrombocytopenia
CentoImmuno
Our CentoImmuno panel is specifically designed to target genes associated with Human Inborn Errors of Immunity (IEI). The later consists of a large and diverse group of disorders presenting a common clinical characteristic; suppressed innate and adaptive immunity (J Clin Immunol 2022 Oct;42(7):1508-1520). Causative variants of genes included in CentoImmuno most often confer susceptibility to infectious disease, autoinflammatory disease, neoplasia, autoimmunity, or allergy.
| No. of genes: | 441 |
|---|---|
| TAT: | 25 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ACD | 609377 | ?Dyskeratosis congenita, autosomal dominant 6 | AD, AR |
| ?Dyskeratosis congenita, autosomal recessive 7 | AD, AR | ||
| ACP5 | 171640 | Spondyloenchondrodysplasia with immune dysregulation | AR |
| ACTB | 102630 | Baraitser-Winter syndrome 1 | AD |
| ?Dystonia, juvenile-onset | AD | ||
| ADA | 608958 | Adenosine deaminase deficiency, partial | AR, Somatic mosaicism |
| Severe combined immunodeficiency due to ADA deficiency | AR, Somatic mosaicism | ||
| ADA2 | 607575 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | AR |
| ?Sneddon syndrome | AR | ||
| ADAM17 | 603639 | ?Inflammatory skin and bowel disease, neonatal, 1 | AR |
| ADAR | 146920 | Aicardi-Goutieres syndrome 6 | AR |
| Dyschromatosis symmetrica hereditaria | AD | ||
| AICDA | 605257 | Immunodeficiency with hyper-IgM, type 2 | AR |
| AIRE | 607358 | Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia | AD, AR |
| AK2 | 103020 | Reticular dysgenesis | AR |
| AP1S3 | 615781 | Psoriasis 15, pustular, susceptibility to | AD |
| AP3B1 | 603401 | Hermansky-Pudlak syndrome 2 | AR |
| AP3D1 | 607246 | ?Hermansky-Pudlak syndrome 10 | AR |
| APOL1 | 603743 | Glomerulosclerosis, focal segmental, 4, susceptibility to | - |
| End-stage renal disease, nondiabetic, susceptibility to | - | ||
| ARPC1B | 604223 | Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia | AR |
| ATM | 607585 | Breast cancer, susceptibility to | AD, SM |
| Ataxia-telangiectasia | AR | ||
| ATP6AP1 | 300197 | Immunodeficiency 47 | XLR |
| B2M | 109700 | Immunodeficiency 43 | AR |
| ?Amyloidosis, familial visceral | AD | ||
| BACH2 | 605394 | Immunodeficiency 60 | AD |
| BCL10 | 603517 | Mesothelioma, somatic | - |
| Lymphoma, follicular, somatic | - | ||
| Male germ cell tumor, somatic | - | ||
| ?Immunodeficiency 37 | AR | ||
| Lymphoma, MALT, somatic | - | ||
| BCL11B | 606558 | Immunodeficiency 49 | AD |
| Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities | AD | ||
| BLM | 604610 | Bloom syndrome | AR |
| BLNK | 604515 | ?Agammaglobulinemia 4 | AR |
| BRCA1 | 113705 | Breast-ovarian cancer, familial, 1 | AD, MF |
| Pancreatic cancer, susceptibility to, 4 | - | ||
| Fanconi anemia, complementation group S | AR | ||
| BRCA2 | 600185 | Prostate cancer | AD, SM |
| Breast-ovarian cancer, familial, 2 | AD | ||
| Glioblastoma 3 | AR | ||
| Wilms tumor | AD, SM | ||
| Pancreatic cancer 2 | - | ||
| Breast cancer, male, susceptibility to | AD, SM | ||
| Fanconi anemia, complementation group D1 | AR | ||
| Medulloblastoma | AD, AR, SM | ||
| BRIP1 | 605882 | Fanconi anemia, complementation group J | - |
| Breast cancer, early-onset, susceptibility to | AD, SM | ||
| BTK | 300300 | Agammaglobulinemia, X-linked 1 | XLR |
| Isolated growth hormone deficiency, type III, with agammaglobulinemia | XLR | ||
| C1QA | 120550 | C1q deficiency | AR |
| C1QB | 120570 | C1q deficiency | AR |
| C1QC | 120575 | C1q deficiency | AR |
| C1R | 613785 | Ehlers-Danlos syndrome, periodontal type, 1 | AD |
| C1S | 120580 | C1s deficiency | - |
| Ehlers-Danlos syndrome, periodontal type, 2 | AD | ||
| C2 | 613927 | Macular degeneration, age-related, 14, reduced risk of | DD |
| C2 deficiency | AR | ||
| C3 | 120700 | Macular degeneration, age-related, 9 | - |
| C3 deficiency | AR | ||
| Hemolytic uremic syndrome, atypical, susceptibility to, 5 | AD | ||
| C5 | 120900 | C5 deficiency | AR |
| [Eculizumab, poor response to] | AD | ||
| C6 | 217050 | C6 deficiency | - |
| C7 | 217070 | C7 deficiency | - |
| C8A | 120950 | C8 deficiency, type I | AR |
| C8B | 120960 | C8 deficiency, type II | AR |
| C9 | 120940 | Macular degeneration, age-related, 15, susceptibility to | - |
| C9 deficiency | - | ||
| CARD11 | 607210 | Immunodeficiency 11A | AR |
| Immunodeficiency 11B with atopic dermatitis | AD | ||
| B-cell expansion with NFKB and T-cell anergy | AD | ||
| CARD14 | 607211 | Psoriasis 2 | AD |
| Pityriasis rubra pilaris | AD | ||
| CARD9 | 607212 | Candidiasis, familial, 2, autosomal recessive | AR |
| CARMIL2 | 610859 | Immunodeficiency 58 | AR |
| CASP10 | 601762 | Autoimmune lymphoproliferative syndrome, type II | AD |
| Gastric cancer, somatic | - | ||
| Lymphoma, non-Hodgkin, somatic | - | ||
| CASP8 | 601763 | Breast cancer, protection against | AD, SM |
| Lung cancer, protection against | AD, SM | ||
| ?Autoimmune lymphoproliferative syndrome, type IIB | AR | ||
| Hepatocellular carcinoma, somatic | - | ||
| CCBE1 | 612753 | Hennekam lymphangiectasia-lymphedema syndrome 1 | AR |
| CCDC103 | 614677 | Ciliary dyskinesia, primary, 17 | AR |
| CCDC39 | 613798 | Ciliary dyskinesia, primary, 14 | AR |
| CCDC40 | 613799 | Ciliary dyskinesia, primary, 15 | AR |
| CCDC65 | 611088 | Ciliary dyskinesia, primary, 27 | AR |
| CCNO | 607752 | Ciliary dyskinesia, primary, 29 | AR |
| CD19 | 107265 | Immunodeficiency, common variable, 3 | AR |
| CD247 | 186780 | ?Immunodeficiency 25 | AR |
| CD27 | 186711 | Lymphoproliferative syndrome 2 | AR |
| CD3D | 186790 | Immunodeficiency 19 | AR |
| CD3E | 186830 | Immunodeficiency 18, SCID variant | AR |
| Immunodeficiency 18 | AR | ||
| CD3G | 186740 | Immunodeficiency 17, CD3 gamma deficient | AR |
| CD40 | 109535 | Immunodeficiency with hyper-IgM, type 3 | AR |
| CD40LG | 300386 | Immunodeficiency, X-linked, with hyper-IgM | XLR |
| CD46 | 120920 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | AD, AR |
| CD55 | 125240 | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | AR |
| [Blood group Cromer] | AR | ||
| CD59 | 107271 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy | AR |
| CD70 | 602840 | Lymphoproliferative syndrome 3 | AR |
| CD79A | 112205 | Agammaglobulinemia 3 | AR |
| CD79B | 147245 | Agammaglobulinemia 6 | AR |
| CD81 | 186845 | Immunodeficiency, common variable, 6 | AR |
| CD8A | 186910 | CD8 deficiency, familial | AR |
| CDC42 | 116952 | Takenouchi-Kosaki syndrome | AD |
| CDCA7 | 609937 | Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | AR |
| CEBPE | 600749 | Specific granule deficiency | AR |
| ?Immunodeficiency 108 with autoinflammation | - | ||
| CFAP298 | 615494 | Ciliary dyskinesia, primary, 26 | AR |
| CFAP300 | 618058 | Ciliary dyskinesia, primary, 38 | AR |
| CFB | 138470 | ?Complement factor B deficiency | AR |
| Hemolytic uremic syndrome, atypical, susceptibility to, 4 | AD | ||
| Macular degeneration, age-related, 14, reduced risk of | DD | ||
| CFD | 134350 | Complement factor D deficiency | AR |
| CFH | 134370 | Basal laminar drusen | AD |
| Macular degeneration, age-related, 4 | - | ||
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | AD, AR | ||
| Complement factor H deficiency | AD, AR | ||
| CFHR1 | 134371 | Macular degeneration, age-related, reduced risk of | AD |
| Hemolytic uremic syndrome, atypical, susceptibility to | AD, AR | ||
| CFI | 217030 | Complement factor I deficiency | AR |
| Macular degeneration, age-related, 13, susceptibility to | AD | ||
| Hemolytic uremic syndrome, atypical, susceptibility to, 3 | AD | ||
| CFP | 300383 | Properdin deficiency, X-linked | XLR |
| 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 | ||
| CHD7 | 608892 | CHARGE syndrome | AD |
| Hypogonadotropic hypogonadism 5 with or without anosmia | AD | ||
| CIB1 | 602293 | Epidermodysplasia verruciformis 3 | AR |
| CIITA | 600005 | Rheumatoid arthritis, susceptibility to | - |
| Bare lymphocyte syndrome, type II, complementation group A | AR | ||
| CLCN7 | 602727 | Osteopetrosis, autosomal recessive 4 | AR |
| Osteopetrosis, autosomal dominant 2 | AD | ||
| Hypopigmentation, organomegaly, and delayed myelination and development | AD | ||
| CLPB | 616254 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia | AR |
| 3-methylglutaconic aciduria, type VIIA, autosomal dominant | AD | ||
| Neutropenia, severe congenital, 9, autosomal dominant | AD | ||
| COG6 | 606977 | Shaheen syndrome | AR |
| Congenital disorder of glycosylation, type IIl | AR | ||
| COPA | 601924 | Autoimmune interstitial lung, joint, and kidney disease | AD |
| CORO1A | 605000 | Immunodeficiency 8 | AR |
| CR2 | 120650 | Immunodeficiency, common variable, 7 | AR |
| Systemic lupus erythematosus, susceptibility to, 9 | - | ||
| CSF2RB | 138981 | Surfactant metabolism dysfunction, pulmonary, 5 | AR |
| CSF3R | 138971 | Neutropenia, severe congenital, 7, autosomal recessive | AR |
| ?Neutrophilia, hereditary | AD | ||
| CTC1 | 613129 | Cerebroretinal microangiopathy with calcifications and cysts | AR |
| CTLA4 | 123890 | Systemic lupus erythematosus, susceptibility to | AD |
| Autoimmune lymphoproliferative syndrome, type V | AD | ||
| Celiac disease, susceptibility to, 3 | - | ||
| Hashimoto thyroiditis | AD | ||
| Diabetes mellitus, insulin-dependent, 12 | - | ||
| CTPS1 | 123860 | Immunodeficiency 24 | AR |
| CTSC | 602365 | Periodontitis 1, juvenile | AR |
| Haim-Munk syndrome | AR | ||
| Papillon-Lefevre syndrome | AR | ||
| CXCR2 | 146928 | ?WHIM syndrome 2 | AR |
| CXCR4 | 162643 | WHIM syndrome | AD |
| CYBA | 608508 | Chronic granulomatous disease 4, autosomal recessive | AR |
| CYBB | - | Immunodeficiency 34, mycobacteriosis, X-linked | XLR |
| Chronic granulomatous disease, X-linked | XLR | ||
| CYBC1 | 618334 | Chronic granulomatous disease 5, autosomal recessive | AR |
| DBR1 | 607024 | Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 | AR |
| DCLRE1B | 609683 | Dyskeratosis congenita, autosomal recessive 8 | - |
| DCLRE1C | 605988 | Omenn syndrome | AR |
| Severe combined immunodeficiency, Athabascan type | AR | ||
| DEF6 | 610094 | Immunodeficiency 87 and autoimmunity | AR |
| DIAPH1 | 602121 | Seizures, cortical blindness, microcephaly syndrome | AR |
| Deafness, autosomal dominant 1, with or without thrombocytopenia | AD | ||
| DKC1 | 300126 | Dyskeratosis congenita, X-linked | XLR |
| 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 |
| DNAJB13 | 610263 | Ciliary dyskinesia, primary, 34 | AR |
| DNAJC21 | 617048 | Bone marrow failure syndrome 3 | AR |
| DNAL1 | 610062 | Ciliary dyskinesia, primary, 16 | AR |
| DNASE1L3 | 602244 | Systemic lupus erythematosus 16 | AR |
| DNASE2 | 126350 | Autoinflammatory-pancytopenia syndrome | - |
| DNMT3B | 602900 | Facioscapulohumeral muscular dystrophy 4, digenic | DD |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | AR | ||
| DOCK2 | 603122 | Immunodeficiency 40 | AR |
| DOCK8 | 611432 | Hyper-IgE recurrent infection syndrome, autosomal recessive | AR |
| DRC1 | 615288 | Ciliary dyskinesia, primary, 21 | AR |
| DSG1 | 125670 | Keratosis palmoplantaris striata I, AD | AD |
| Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE | AR | ||
| EFL1 | 617538 | Shwachman-Diamond syndrome 2 | AR |
| ELANE | 130130 | Neutropenia, cyclic | AD |
| Neutropenia, severe congenital 1, autosomal dominant | AD | ||
| EPG5 | 615068 | Vici syndrome | AR |
| ERCC4 | 133520 | XFE progeroid syndrome | AR |
| Xeroderma pigmentosum, type F/Cockayne syndrome | AR | ||
| Xeroderma pigmentosum, group F | AR | ||
| Fanconi anemia, complementation group Q | AR | ||
| ERCC6L2 | 615667 | Bone marrow failure syndrome 2 | AR |
| EXTL3 | 605744 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | AR |
| F12 | 610619 | Factor XII deficiency | AR |
| Angioedema, hereditary, type III | AD | ||
| FADD | 602457 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | AR |
| FANCA | 607139 | Fanconi anemia, complementation group A | AR |
| FANCB | - | Fanconi anemia, complementation group B | XLR |
| FANCC | 613899 | Fanconi anemia, complementation group C | AR |
| FANCD2 | 613984 | Fanconi anemia, complementation group D2 | AR |
| FANCE | 613976 | Fanconi anemia, complementation group E | AR |
| FANCF | 613897 | Fanconi anemia, complementation group F | AR |
| FANCI | 611360 | Fanconi anemia, complementation group I | AR |
| FANCL | - | Fanconi anemia, complementation group L | AR |
| FANCM | 609644 | Spermatogenic failure 28 | AR |
| ?Premature ovarian failure 15 | AR | ||
| FAS | 134637 | Autoimmune lymphoproliferative syndrome, type IA | AD |
| Autoimmune lymphoproliferative syndrome | AD | ||
| FASLG | 134638 | Autoimmune lymphoproliferative syndrome, type IB | AD |
| Lung cancer, susceptibility to | AD, SM | ||
| FAT4 | 612411 | Hennekam lymphangiectasia-lymphedema syndrome 2 | AR |
| Van Maldergem syndrome 2 | AR | ||
| FCGR3A | 146740 | Immunodeficiency 20 | AR |
| FCHO1 | 613437 | Immunodeficiency 76 | AR |
| FCN3 | 604973 | Immunodeficiency due to ficolin 3 deficiency | AR |
| FERMT1 | 607900 | Kindler syndrome | AR |
| FERMT3 | 607901 | Leukocyte adhesion deficiency, type III | AR |
| FNIP1 | 610594 | Immunodeficiency 93 and hypertrophic cardiomyopathy | AR |
| FOXN1 | 600838 | T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | AD |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | AR | ||
| FOXP3 | 300292 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | XLR |
| G6PC3 | 611045 | Dursun syndrome | AR |
| Neutropenia, severe congenital 4, autosomal recessive | AR | ||
| G6PD | 305900 | Resistance to malaria due to G6PD deficiency | - |
| Hemolytic anemia, G6PD deficient (favism) | XLD | ||
| GAS2L2 | 611398 | ?Ciliary dyskinesia, primary, 41 | AR |
| GAS8 | 605178 | Ciliary dyskinesia, primary, 33 | AR |
| GATA1 | 305371 | Thrombocytopenia with beta-thalassemia, X-linked | XLR |
| Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | XLR | ||
| Anemia, X-linked, with/without neutropenia and/or platelet abnormalities | XLR | ||
| Leukemia, megakaryoblastic, with or without Down syndrome, somatic | - | ||
| Hemolytic anemia due to elevated adenosine deaminase | - | ||
| GATA2 | 137295 | Myelodysplastic syndrome, susceptibility to | - |
| Leukemia, acute myeloid, susceptibility to | AD, SM | ||
| Emberger syndrome | AD | ||
| Immunodeficiency 21 | AD | ||
| GFI1 | 600871 | Neutropenia, severe congenital 2, autosomal dominant | AD |
| ?Neutropenia, nonimmune chronic idiopathic, of adults | AD | ||
| GINS1 | 610608 | Immunodeficiency 55 | AR |
| GUCY2C | 601330 | Meconium ileus | AR |
| Diarrhea 6 | AD | ||
| HAX1 | 605998 | Neutropenia, severe congenital 3, autosomal recessive | AR |
| HELLS | 603946 | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | AR |
| HMOX1 | 141250 | Heme oxygenase-1 deficiency | AR |
| Pulmonary disease, chronic obstructive, susceptibility to | - | ||
| HYDIN | 610812 | Ciliary dyskinesia, primary, 5 | AR |
| HYOU1 | 601746 | ?Immunodeficiency 59 and hypoglycemia | AR |
| ICOS | 604558 | Immunodeficiency, common variable, 1 | AR |
| IFIH1 | 606951 | Aicardi-Goutieres syndrome 7 | AD |
| Singleton-Merten syndrome 1 | AD | ||
| Immunodeficiency 95 | AR | ||
| IFNAR1 | 107450 | Immunodeficiency 106, susceptibility to viral infections | - |
| IFNAR2 | 602376 | Hepatitis B virus, susceptibility to | - |
| ?Immunodeficiency 45 | AR | ||
| IFNGR1 | 107470 | Immunodeficiency 27A, mycobacteriosis, AR | AR |
| Hepatitis B virus infection, susceptibility to | - | ||
| Tuberculosis, susceptibility to | - | ||
| Tuberculosis infection, protection against | - | ||
| H. pylori infection, susceptibility to | - | ||
| Immunodeficiency 27B, mycobacteriosis, AD | AD | ||
| IFNGR2 | 147569 | Immunodeficiency 28, mycobacteriosis | AR |
| IGHM | 147020 | Agammaglobulinemia 1 | AR |
| IGLL1 | 146770 | Agammaglobulinemia 2 | AR |
| IKBKB | 603258 | Immunodeficiency 15B | AR |
| Immunodeficiency 15A | AD | ||
| IKZF1 | 603023 | Immunodeficiency, common variable, 13 | AD |
| IL10 | 124092 | Graft-versus-host disease, protection against | - |
| Rheumatoid arthritis, progression of | - | ||
| HIV-1, susceptibility to | - | ||
| IL10RA | 146933 | Inflammatory bowel disease 28, early onset, autosomal recessive | AR |
| IL10RB | 123889 | Inflammatory bowel disease 25, early onset, autosomal recessive | AR |
| Hepatitis B virus, susceptibility to | - | ||
| IL12B | 161561 | Immunodeficiency 29, mycobacteriosis | AR |
| IL12RB1 | 601604 | Immunodeficiency 30 | AR |
| IL17F | 606496 | ?Candidiasis, familial, 6, autosomal dominant | - |
| IL17RA | 605461 | Immunodeficiency 51 | AR |
| IL17RC | 610925 | Candidiasis, familial, 9 | AR |
| IL18BP | 604113 | ?Hepatitis, fulminant viral, susceptibility to | AR |
| IL1RN | 147679 | Microvascular complications of diabetes 4 | - |
| Gastric cancer risk after H. pylori infection | - | ||
| Interleukin 1 receptor antagonist deficiency | AR | ||
| Gastric cancer risk after H. pylori infection | AD | ||
| IL21 | 605384 | ?Immunodeficiency, common variable, 11 | AR |
| IL21R | 605383 | [IgE, elevated level of] | AD |
| Immunodeficiency 56 | AR | ||
| IL23R | 607562 | Inflammatory bowel disease 17, protection against | - |
| Psoriasis, protection against | - | ||
| IL2RA | 147730 | Diabetes, mellitus, insulin-dependent, susceptibility to, 10 | - |
| Immunodeficiency 41 with lymphoproliferation and autoimmunity | AR | ||
| IL2RB | 146710 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | AR |
| IL2RG | 308380 | Severe combined immunodeficiency, X-linked | XLR |
| Combined immunodeficiency, X-linked, moderate | XLR | ||
| IL36RN | 605507 | Psoriasis 14, pustular | AR |
| IL6R | 147880 | [Interleukin 6, serum level of, QTL] | - |
| Hyper-IgE recurrent infection syndrome 5, autosomal recessive | AR | ||
| [Interleukin-6 receptor, soluble, serum level of, QTL] | - | ||
| IL6ST | 600694 | Hyper-IgE recurrent infection syndrome 4A, autosomal dominant | AD |
| Hyper-IgE recurrent infection syndrome 4, autosomal recessive | AR | ||
| ?Immunodeficiency 94 with autoinflammation and dysmorphic facies | AD | ||
| Stuve-Wiedemann syndrome 2 | AR | ||
| IL7R | 146661 | Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type | AR |
| IRAK4 | 606883 | Immunodeficiency 67 | AR |
| IRF2BP2 | 615332 | ?Immunodeficiency, common variable, 14 | AD |
| IRF3 | 603734 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 | AD |
| IRF4 | 601900 | [Skin/hair/eye pigmentation, variation in, 8] | - |
| IRF7 | 605047 | ?Immunodeficiency 39 | AR |
| IRF8 | 601565 | Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive | AR |
| Immunodeficiency 32A, mycobacteriosis, autosomal dominant | AD | ||
| IRF9 | 147574 | Immunodeficiency 65, susceptibility to viral infections | AR |
| ISG15 | 147571 | Immunodeficiency 38 | AR |
| ITCH | 606409 | Autoimmune disease, multisystem, with facial dysmorphism | AR |
| ITGB2 | 600065 | Leukocyte adhesion deficiency | AR |
| ITK | 186973 | Lymphoproliferative syndrome 1 | AR |
| JAGN1 | 616012 | Neutropenia, severe congenital, 6, autosomal recessive | AR |
| JAK1 | 147795 | Autoinflammation, immune dysregulation, and eosinophilia | AD |
| JAK3 | 600173 | SCID, autosomal recessive, T-negative/B-positive type | AR |
| KDM6A | 300128 | Kabuki syndrome 2 | XLD |
| KMT2A | 159555 | Wiedemann-Steiner syndrome | AD |
| KMT2D | 602113 | Kabuki syndrome 1 | AD |
| KRAS | 190070 | Arteriovenous malformation of the brain, somatic | - |
| Gastric cancer, somatic | - | ||
| Oculoectodermal syndrome, somatic | - | ||
| RAS-associated autoimmune leukoproliferative disorder | AD | ||
| Gastric cancer, somatic | - | ||
| Pancreatic carcinoma, somatic | - | ||
| Lung cancer, somatic | - | ||
| Cardiofaciocutaneous syndrome 2 | AD | ||
| Bladder cancer, somatic | - | ||
| Leukemia, acute myeloid, somatic | - | ||
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - | ||
| Breast cancer, somatic | - | ||
| Noonan syndrome 3 | AD | ||
| LAMTOR2 | 610389 | Immunodeficiency due to defect in MAPBP-interacting protein | AR |
| LAT | 602354 | Immunodeficiency 52 | AR |
| LCK | 153390 | ?Immunodeficiency 22 | AR |
| LIG1 | 126391 | Immunodeficiency 96 | AR |
| LIG4 | 601837 | Multiple myeloma, resistance to | SM |
| LIG4 syndrome | AR | ||
| LPIN2 | 605519 | Majeed syndrome | - |
| LRBA | 606453 | Immunodeficiency, common variable, 8, with autoimmunity | AR |
| LYST | 606897 | Chediak-Higashi syndrome | AR |
| MAD2L2 | 604094 | ?Fanconi anemia, complementation group V | AR |
| MAGT1 | 300715 | Congenital disorder of glycosylation, type Icc | XLR |
| Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia | XLR | ||
| MALT1 | 604860 | Immunodeficiency 12 | AR |
| MASP2 | 605102 | MASP2 deficiency | AR |
| MCIDAS | 614086 | Ciliary dyskinesia, primary, 42 | AR |
| MCM4 | 602638 | Immunodeficiency 54 | AR |
| MECOM | 165215 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | AD |
| MEFV | - | Neutrophilic dermatosis, acute febrile | AD |
| Familial Mediterranean fever, AR | AR | ||
| Familial Mediterranean fever, AD | AD | ||
| MOGS | 601336 | Congenital disorder of glycosylation, type IIb | AR |
| MPO | 606989 | Myeloperoxidase deficiency | AR |
| Alzheimer disease, susceptibility to | AD | ||
| MS4A1 | 112210 | ?Immunodeficiency, common variable, 5 | AR |
| MSH6 | 600678 | Colorectal cancer, hereditary nonpolyposis, type 5 | AD |
| Endometrial cancer, familial | AD, SM | ||
| Mismatch repair cancer syndrome 3 | AR | ||
| MSN | 309845 | Immunodeficiency 50 | XLR |
| MTHFD1 | 172460 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | AR |
| Neural tube defects, folate-sensitive, susceptibility to | AR | ||
| MVK | 251170 | Mevalonic aciduria | AR |
| Hyper-IgD syndrome | AR | ||
| Porokeratosis 3, multiple types | AD | ||
| MYD88 | 602170 | Macroglobulinemia, Waldenstrom, somatic | - |
| Immunodeficiency 68 | AR | ||
| MYSM1 | 612176 | Bone marrow failure syndrome 4 | AR |
| NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly | AR |
| Infantile liver failure syndrome 2 | AR | ||
| NBN | 602667 | Aplastic anemia | - |
| Leukemia, acute lymphoblastic | - | ||
| Nijmegen breakage syndrome | AR | ||
| NCF1 | 608512 | Chronic granulomatous disease 1, autosomal recessive | AR |
| NCF2 | 608515 | Chronic granulomatous disease 2, autosomal recessive | AR |
| NCF4 | - | Chronic granulomatous disease 3, autosomal recessive | AR |
| NCKAP1L | 141180 | Immunodeficiency 72 with autoinflammation | AR |
| NCSTN | 605254 | Acne inversa, familial, 1 | AD |
| NFE2L2 | 600492 | Immunodeficiency, developmental delay, and hypohomocysteinemia | AD |
| NFKB1 | 164011 | Immunodeficiency, common variable, 12 | AD |
| NFKB2 | 164012 | Immunodeficiency, common variable, 10 | AD |
| NFKBIA | 164008 | Ectodermal dysplasia and immunodeficiency 2 | AD |
| NHEJ1 | 611290 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | - |
| NHP2 | 606470 | Dyskeratosis congenita, autosomal recessive 2 | AR |
| NLRC4 | 606831 | Autoinflammation with infantile enterocolitis | AD |
| ?Familial cold autoinflammatory syndrome 4 | AD | ||
| NLRP1 | 606636 | Autoinflammation with arthritis and dyskeratosis | AD, AR |
| ?Respiratory papillomatosis, juvenile recurrent, congenital | AR | ||
| Palmoplantar carcinoma, multiple self-healing | AD | ||
| Vitiligo-associated multiple autoimmune disease susceptibility 1 | - | ||
| NLRP12 | 609648 | Familial cold autoinflammatory syndrome 2 | AD |
| NLRP3 | 606416 | CINCA syndrome | AD |
| Deafness, autosomal dominant 34, with or without inflammation | AD | ||
| Keratoendothelitis fugax hereditaria | AD | ||
| Familial cold inflammatory syndrome 1 | AD | ||
| Muckle-Wells syndrome | AD | ||
| NME8 | 607421 | Ciliary dyskinesia, primary, 6 | AR |
| NOD2 | 605956 | Yao syndrome | MF |
| Blau syndrome | AD | ||
| Inflammatory bowel disease 1, Crohn disease | MF | ||
| NOP10 | 606471 | Dyskeratosis congenita, autosomal recessive 1 | AR |
| NRAS | 164790 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - |
| Colorectal cancer, somatic | - | ||
| Neurocutaneous melanosis, somatic | - | ||
| ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | - | ||
| Noonan syndrome 6 | AD | ||
| Melanocytic nevus syndrome, congenital, somatic | - | ||
| Thyroid carcinoma, follicular, somatic | - | ||
| Epidermal nevus, somatic | - | ||
| NSMCE3 | 608243 | Lung disease, immunodeficiency, and chromosome breakage syndrome | AR |
| OAS1 | 164350 | Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia | - |
| ODAD1 | 615038 | Ciliary dyskinesia, primary, 20 | AR |
| ODAD2 | 615408 | Ciliary dyskinesia, primary, 23 | AR |
| ODAD3 | 615956 | Ciliary dyskinesia, primary, 30 | AR |
| ORAI1 | 610277 | Immunodeficiency 9 | AR |
| Myopathy, tubular aggregate, 2 | AD | ||
| OSTM1 | 607649 | Osteopetrosis, autosomal recessive 5 | AR |
| OTULIN | 615712 | Autoinflammation, panniculitis, and dermatosis syndrome | AR |
| Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection | - | ||
| PALB2 | 610355 | Pancreatic cancer, susceptibility to, 3 | - |
| Fanconi anemia, complementation group N | - | ||
| Breast cancer, susceptibility to | AD, SM | ||
| PARN | 604212 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 | AD |
| Dyskeratosis congenita, autosomal recessive 6 | AR | ||
| PAX1 | 167411 | Otofaciocervical syndrome 2 | AR |
| PEPD | 613230 | Prolidase deficiency | AR |
| PGM3 | 172100 | Immunodeficiency 23 | AR |
| PIK3CD | 602839 | Immunodeficiency 14 | AD |
| ?Roifman-Chitayat syndrome, digenic | DR | ||
| Immunodeficiency 14B, autosomal recessive | AR | ||
| PIK3R1 | 171833 | ?Agammaglobulinemia 7, autosomal recessive | AR |
| Immunodeficiency 36 | AD | ||
| SHORT syndrome | AD | ||
| PLCG2 | 600220 | Familial cold autoinflammatory syndrome 3 | AD |
| Autoinflammation, antibody deficiency, and immune dysregulation syndrome | AD | ||
| PMM2 | 601785 | Congenital disorder of glycosylation, type Ia | AR |
| PMS2 | 600259 | Colorectal cancer, hereditary nonpolyposis, type 4 | - |
| Mismatch repair cancer syndrome 4 | AR | ||
| PNP | 164050 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | AR |
| POLA1 | 312040 | Van Esch-O'Driscoll syndrome | XLR |
| Pigmentary disorder, reticulate, with systemic manifestations, X-linked | XLR | ||
| POLD1 | 174761 | Colorectal cancer, susceptibility to, 10 | AD |
| Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | AD | ||
| POLE | 174762 | Colorectal cancer, susceptibility to, 12 | AD |
| IMAGE-I syndrome | AR | ||
| FILS syndrome | AR | ||
| POLR3A | 614258 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | AR |
| Wiedemann-Rautenstrauch syndrome | AR | ||
| POLR3F | 617455 | ?Immunodeficiency 101 (varicella zoster virus-specific) | - |
| POMP | 613386 | Proteasome-associated autoinflammatory syndrome 2 | AD |
| Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | AR | ||
| PRF1 | 170280 | Hemophagocytic lymphohistiocytosis, familial, 2 | AR |
| Lymphoma, non-Hodgkin | - | ||
| Aplastic anemia | - | ||
| PRKCD | 176977 | Autoimmune lymphoproliferative syndrome, type III | AR |
| PRKDC | 600899 | Immunodeficiency 26, with or without neurologic abnormalities | AR |
| PSENEN | 607632 | Acne inversa, familial, 2, with or without Dowling-Degos disease | AD |
| PSMB8 | 177046 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | AR |
| PSMG2 | 609702 | ?Proteasome-associated autoinflammatory syndrome 4 | AR |
| PSTPIP1 | 606347 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | AD |
| PTEN | 601728 | Cowden syndrome 1 | AD |
| Lhermitte-Duclos syndrome | AD | ||
| Macrocephaly/autism syndrome | AD | ||
| Glioma susceptibility 2 | - | ||
| Meningioma | AD | ||
| Prostate cancer, somatic | - | ||
| PTPRC | 151460 | Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive | AR |
| Hepatitis C virus, susceptibility to | - | ||
| Immunodeficiency 105, severe combined | - | ||
| RAB27A | 603868 | Griscelli syndrome, type 2 | AR |
| RAC2 | 602049 | ?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia | AR |
| Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis | AD | ||
| Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia | AD | ||
| RAD51 | 179617 | Breast cancer, susceptibility to | AD, SM |
| Mirror movements 2 | AD | ||
| Fanconi anemia, complementation group R | AD | ||
| RAD51C | 602774 | Fanconi anemia, complementation group O | AR |
| Breast-ovarian cancer, familial, susceptibility to, 3 | - | ||
| 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 | ||
| RANBP2 | 601181 | Encephalopathy, acute, infection-induced, 3, susceptibility to | AD |
| RASGRP1 | 603962 | Immunodeficiency 64 | AR |
| RBCK1 | 610924 | Polyglucosan body myopathy 1 with or without immunodeficiency | AR |
| REL | 164910 | Immunodeficiency 92 | AR |
| RELA | 164014 | ?Mucocutaneous ulceration, chronic | AD |
| RELB | 604758 | ?Immunodeficiency 53 | AR |
| RFWD3 | 614151 | ?Fanconi anemia, complementation group W | AR |
| RFX5 | 601863 | Bare lymphocyte syndrome, type II, complementation group E | AR |
| Bare lymphocyte syndrome, type II, complementation group C | AR | ||
| RFXANK | 603200 | MHC class II deficiency, complementation group B | AR |
| RFXAP | 601861 | Bare lymphocyte syndrome, type II, complementation group D | AR |
| RHOH | 602037 | ?Epidermodysplasia verruciformis, susceptibility to, 4 | AR |
| RIPK1 | 603453 | Autoinflammation with episodic fever and lymphadenopathy | AD |
| Immunodeficiency 57 with autoinflammation | AR | ||
| RMRP | 157660 | Cartilage-hair hypoplasia | AR |
| Anauxetic dysplasia 1 | AR | ||
| Metaphyseal dysplasia without hypotrichosis | AR | ||
| RNASEH2A | 606034 | Aicardi-Goutieres syndrome 4 | AR |
| RNASEH2B | 610326 | Aicardi-Goutieres syndrome 2 | AR |
| RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
| RNF168 | 612688 | RIDDLE syndrome | AR |
| RNU4ATAC | - | Lowry-Wood syndrome | AR |
| Microcephalic osteodysplastic primordial dwarfism, type I | AR | ||
| Roifman syndrome | AR | ||
| RORC | 602943 | Immunodeficiency 42 | AR |
| RPSA | 150370 | Asplenia, isolated congenital | AD |
| RSPH1 | 609314 | Ciliary dyskinesia, primary, 24 | AR |
| RSPH4A | 612647 | Ciliary dyskinesia, primary, 11 | - |
| RSPH9 | 612648 | Ciliary dyskinesia, primary, 12 | - |
| 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 | ||
| SAMD9 | 610456 | Monosomy 7 myelodysplasia and leukemia syndrome 2 | AD |
| MIRAGE syndrome | AD | ||
| Tumoral calcinosis, familial, normophosphatemic | AR | ||
| SAMD9L | 611170 | Ataxia-pancytopenia syndrome | AD |
| Monosomy 7 myelodysplasia and leukemia syndrome 1 | AD | ||
| Spinocerebellar ataxia 49 | AD | ||
| SAMHD1 | 606754 | ?Chilblain lupus 2 | AD |
| Aicardi-Goutieres syndrome 5 | AR | ||
| SBDS | 607444 | Aplastic anemia, susceptibility to | - |
| Shwachman-Diamond syndrome | AR | ||
| SEC61A1 | 609213 | Hyperuricemic nephropathy, familial juvenile, 4 | AD |
| SEMA3E | 608166 | ?CHARGE syndrome | AD |
| SERPING1 | 606860 | Complement component 4, partial deficiency of | AD |
| Angioedema, hereditary, types I and II | AD, AR | ||
| SH2D1A | - | Lymphoproliferative syndrome, X-linked, 1 | XLR |
| SH3BP2 | 602104 | Cherubism | AD |
| SH3KBP1 | 300374 | ?Immunodeficiency 61 | XLR |
| SKIV2L | 600478 | Trichohepatoenteric syndrome 2 | AR |
| SLC29A3 | 612373 | Histiocytosis-lymphadenopathy plus syndrome | AR |
| SLC35C1 | 605881 | Congenital disorder of glycosylation, type IIc | AR |
| SLC39A4 | 607059 | Acrodermatitis enteropathica | AR |
| SLC39A7 | 601416 | Agammaglobulinemia 9, autosomal recessive | AR |
| SLC46A1 | 611672 | Folate malabsorption, hereditary | AR |
| SLC7A7 | 603593 | Lysinuric protein intolerance | AR |
| SLX4 | 613278 | Fanconi anemia, complementation group P | AR |
| SMARCAL1 | 606622 | Schimke immunoosseous dysplasia | AR |
| SMARCD2 | 601736 | Specific granule deficiency 2 | AR |
| SNX10 | 614780 | Osteopetrosis, autosomal recessive 8 | AR |
| SP110 | 604457 | Mycobacterium tuberculosis, susceptibility to | - |
| Hepatic venoocclusive disease with immunodeficiency | AR | ||
| SPAG1 | 603395 | Ciliary dyskinesia, primary, 28 | AR |
| SPINK5 | 605010 | Netherton syndrome | AR |
| SPPL2A | 608238 | Immunodeficiency 86, mycobacteriosis | AR |
| SRP54 | 604857 | Neutropenia, severe congenital, 8, autosomal dominant | AD |
| SRP72 | 602122 | Bone marrow failure syndrome 1 | AD |
| STAT1 | 600555 | Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant | AD |
| Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive | AR | ||
| Immunodeficiency 31A, mycobacteriosis, autosomal dominant | AD | ||
| STAT2 | 600556 | Pseudo-TORCH syndrome 3 | AR |
| Immunodeficiency 44 | AR | ||
| STAT3 | 102582 | Hyper-IgE recurrent infection syndrome | AD |
| Autoimmune disease, multisystem, infantile-onset, 1 | AD | ||
| STAT5B | 604260 | Growth hormone insensitivity with immune dysregulation 2, autosomal dominant | AD |
| Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | AR | ||
| Leukemia, acute promyelocytic, somatic | - | ||
| STIM1 | 605921 | Myopathy, tubular aggregate, 1 | AD |
| Stormorken syndrome | AD | ||
| Immunodeficiency 10 | AR | ||
| STING1 | 612374 | STING-associated vasculopathy, infantile-onset | AD |
| STK36 | 607652 | ?Ciliary dyskinesia, primary, 46 | AR |
| STK4 | 604965 | T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations | - |
| STN1 | 613128 | Cerebroretinal microangiopathy with calcifications and cysts 2 | AR |
| STX11 | 605014 | Hemophagocytic lymphohistiocytosis, familial, 4 | AR |
| STXBP2 | 601717 | Hemophagocytic lymphohistiocytosis, familial, 5 | - |
| TAFAZZIN | 300394 | Barth syndrome | XLR |
| TAP1 | 170260 | Bare lymphocyte syndrome, type I | AR |
| TAP2 | 170261 | Bare lymphocyte syndrome, type I, due to TAP2 deficiency | AR |
| TAPBP | 601962 | Bare lymphocyte syndrome, type I | AR |
| TBK1 | 604834 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | AD |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | AD | ||
| TBX1 | 602054 | Velocardiofacial syndrome | AD |
| Tetralogy of Fallot | AD | ||
| DiGeorge syndrome | AD | ||
| Conotruncal anomaly face syndrome | - | ||
| TCF3 | 147141 | Agammaglobulinemia 8B, autosomal recessive | AR |
| Agammaglobulinemia 8, autosomal dominant | AD | ||
| TCIRG1 | 604592 | Osteopetrosis, autosomal recessive 1 | AR |
| TCN2 | 613441 | Transcobalamin II deficiency | AR |
| TERC | 602322 | Pulmonary fibrosis, idiopathic, susceptibility to | AD |
| Aplastic anemia | AD | ||
| Dyskeratosis congenita, autosomal dominant 1 | AD | ||
| TERT | 187270 | Melanoma, cutaneous malignant, 9 | - |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 | AD | ||
| Dyskeratosis congenita, autosomal dominant 2 | AD, AR | ||
| Leukemia, acute myeloid | AD, SM | ||
| Dyskeratosis congenita, autosomal recessive 4 | AD, AR | ||
| TET2 | 612839 | Myelodysplastic syndrome, somatic | - |
| Immunodeficiency 75 | AR | ||
| TFRC | 190010 | Immunodeficiency 46 | AR |
| TGFB1 | 190180 | Camurati-Engelmann disease | AD |
| Cystic fibrosis lung disease, modifier of | AR | ||
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | AR | ||
| TGFBR1 | 190181 | Loeys-Dietz syndrome 1 | AD |
| Multiple self-healing squamous epithelioma, susceptibility to | AD | ||
| TGFBR2 | 190182 | Colorectal cancer, hereditary nonpolyposis, type 6 | - |
| Loeys-Dietz syndrome 2 | AD | ||
| Esophageal cancer, somatic | - | ||
| THBD | 188040 | Thrombophilia due to thrombomodulin defect | - |
| Hemolytic uremic syndrome, atypical, susceptibility to, 6 | AD | ||
| TICAM1 | 607601 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 | AD, AR |
| TINF2 | 604319 | Revesz syndrome | AD |
| Dyskeratosis congenita, autosomal dominant 3 | AD | ||
| TIRAP | 606252 | Tuberculosis, protection against | - |
| Bacteremia, protection against | - | ||
| Malaria, protection against | - | ||
| TLR3 | 603029 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2 | AD, AR |
| HIV1 infection, resistance to | - | ||
| TLR7 | 300365 | Systemic lupus erythematosus 17 | - |
| Immunodeficiency 74, COVID19-related, X-linked | XLR | ||
| TMC6 | 605828 | Epidermodysplasia verruciformis | AR |
| TMC8 | 605829 | Epidermodysplasia verruciformis 2 | AR |
| TNFAIP3 | 191163 | Autoinflammatory syndrome, familial, Behcet-like | AD |
| TNFRSF11A | 603499 | Paget disease of bone 2, early-onset | AD |
| Osteopetrosis, autosomal recessive 7 | AR | ||
| Osteolysis, familial expansile | AD | ||
| TNFRSF13B | 604907 | Immunodeficiency, common variable, 2 | AD, AR |
| Immunoglobulin A deficiency 2 | - | ||
| TNFRSF13C | 606269 | Immunodeficiency, common variable, 4 | AR |
| TNFRSF1A | 191190 | Periodic fever, familial | AD |
| Multiple sclerosis, susceptibility to, 5 | - | ||
| TNFRSF4 | 600315 | ?Immunodeficiency 16 | AR |
| TNFSF11 | 602642 | Osteopetrosis, autosomal recessive 2 | AR |
| TOP2B | 126431 | B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | AD |
| TP53 | 191170 | Hepatocellular carcinoma, somatic | - |
| Bone marrow failure syndrome 5 | AD | ||
| Basal cell carcinoma 7 | AD | ||
| Nasopharyngeal carcinoma, somatic | - | ||
| Choroid plexus papilloma | AD | ||
| Glioma susceptibility 1 | AD, SM | ||
| Pancreatic cancer, somatic | - | ||
| Breast cancer, somatic | - | ||
| Li-Fraumeni syndrome | AD | ||
| Adrenocortical carcinoma, pediatric | AD | ||
| Osteosarcoma | SM | ||
| Colorectal cancer | AD, SM | ||
| TPP1 | 607998 | Ceroid lipofuscinosis, neuronal, 2 | AR |
| Spinocerebellar ataxia, autosomal recessive 7 | AR | ||
| TPP2 | 190470 | Immunodeficiency 78 with autoimmunity and developmental delay | AR |
| TRAF3 | 601896 | ?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 | - |
| 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 | ||
| TRNT1 | 612907 | Retinitis pigmentosa and erythrocytic microcytosis | AR |
| Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | AR | ||
| TTC37 | 614589 | Trichohepatoenteric syndrome 1 | AR |
| TTC7A | 609332 | Gastrointestinal defects and immunodeficiency syndrome | AR |
| TYK2 | 176941 | Immunodeficiency 35 | AR |
| UBE2T | 610538 | Fanconi anemia, complementation group T | AR |
| UNC13D | 608897 | Hemophagocytic lymphohistiocytosis, familial, 3 | AR |
| UNC93B1 | 608204 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 | - |
| UNG | 191525 | Immunodeficiency with hyper IgM, type 5 | AR |
| USB1 | 613276 | Poikiloderma with neutropenia | AR |
| USP18 | 607057 | Pseudo-TORCH syndrome 2 | AR |
| VPS45 | 610035 | Neutropenia, severe congenital, 5, autosomal recessive | AR |
| WAS | 300392 | Wiskott-Aldrich syndrome | XLR |
| Thrombocytopenia, X-linked | XLR | ||
| Neutropenia, severe congenital, X-linked | XLR | ||
| Thrombocytopenia, X-linked, intermittent | XLR | ||
| WDR1 | 604734 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | AR |
| WIPF1 | 602357 | Wiskott-Aldrich syndrome 2 | AR |
| WRAP53 | 612661 | Dyskeratosis congenita, autosomal recessive 3 | AR |
| XIAP | 300079 | Lymphoproliferative syndrome, X-linked, 2 | XLR |
| XK | 314850 | McLeod syndrome with or without chronic granulomatous disease | XL |
| XRCC2 | 600375 | Spermatogenic failure | AR |
| ?Fanconi anemia, complementation group U | AR | ||
| ?Premature ovarian failure 17 | AR | ||
| ZAP70 | 176947 | Autoimmune disease, multisystem, infantile-onset, 2 | AR |
| Immunodeficiency 48 | AR | ||
| ZBTB24 | 614064 | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | AR |
| ZMYND10 | 607070 | Ciliary dyskinesia, primary, 22 | AR |
| ZNF341 | 618269 | Hyper-IgE recurrent infection syndrome 3, autosomal recessive | AR |
| ZNFX1 | 618931 | Immunodeficiency 91 and hyperinflammation | AR |
COMMON SYNDROMES AND DISORDERS COVERED
- Anhidrotic ectodermal dysplasia with immunodeficiency
- Autoinflammatory disorders (recurrent fever, type 1 interferonopathies, sterile inflammation)
- Bone marrow failure (Fanconi anemia, dyskeratosis congenita, bone marrow failure syndromes)
- Common variable immunodeficiency
- Complement deficiencies (atypical hemolytic uremic syndrome)
- Congenital defects of phagocyte (Neutropenia, Shwachman-Diamond Syndrome, functional defects)
- Congenital thrombocytopenia
- Defects of intrinsic and innate immunity (predisposition to viral, bacterial, fungal and parasitic infections)
- Defects of Vitamin B12 and folate metabolism
- Diseases of immune dysregulation (Hemophagocytic lymphohistiocytosis, EBV susceptibility)
- DNA repair defects
- Hyper IgE syndromes
- Immunodeficiencies affecting cellular and humoral immunity (Severe combined immunodeficiencies; Combined immunodeficiencies)
- Immuno-osseous dysplasias
- Mendelian susceptibility to mycobacterial disease
- Predominantly antibody deficiencies (hypogammaglobulinemia, other antibody deficiencies)
- Syndromes with autoimmunity
- Thymic defects with additional congenital anomalies
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