Severe Combined Immunodeficiency Disease(Combined T and B cell inborn immunodeficiency)
An Autosomal recessive, X-linked recessive mode(s) within the Immune disorders category
Candidate Gene Information
An Autosomal recessive, X-linked recessive mode(s) within the Immune disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | ADA/100 | adenosine deaminase | 20q13.12 | Chr20, NC_000020.11 (44619522..44651699, complement) |
32178 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | IL7R/3575 | interleukin 7 receptor | 5p13.2 | Chr5, NC_000005.10 (35856891..35879603) |
22713 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | JAK3/3718 | Janus kinase 3 | 19p13.11 | Chr19, NC_000019.10 (17824782..17847982, complement) |
23201 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | RAG1/5896 | recombination activating 1 | 11p12 | Chr11, NC_000011.10 (36510353..36579762) |
69410 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | RAG2/5897 | recombination activating 2 | 11p12 | Chr11, NC_000011.10 (36590996..36598236, complement) |
7241 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | DCLRE1C/64421 | DNA cross-link repair 1C | 10p13 | Chr10, NC_000010.11 (14897359..14954432, complement) |
57074 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | TTC7A/57217 | tetratricopeptide repeat domain 7A | 2p21 | Chr2, NC_000002.12 (46915866..47076123) |
160258 nt | 32 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | AK2/204 | adenylate kinase 2 | 1p35.1 | Chr1, NC_000001.11 (33007940..33036883, complement) |
28944 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | PGM3/5238 | phosphoglucomutase 3 | 6q14.1 | Chr6, NC_000006.12 (83148705..83193900, complement) |
45196 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | MALT1/10892 | MALT1 paracaspase | 18q21.32 | Chr18, NC_000018.10 (58671465..58754477) |
83013 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | PTPRC/5788 | protein tyrosine phosphatase receptor type C | 1q32.1 | Chr1, NC_000001.11 (198638713..198757476) |
118764 nt | 37 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | IKBKB/3551 | inhibitor of nuclear factor kappa B kinase subunit beta | 8p11.21 | Chr8, NC_000008.11 (42271302..42332460) |
61159 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | DOCK8/81704 | dedicator of cytokinesis 8 | 9p24.3 | Chr9, NC_000009.12 (211257..465255) |
253999 nt | 53 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | CD3G/917 | CD3 gamma subunit of T-cell receptor complex | 11q23.3 | Chr11, NC_000011.10 (118344344..118355161) |
10818 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | MTHFD1/4522 | methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | 14q23.3 | Chr14, NC_000014.9 (64388353..64460025) |
71673 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | CORO1A/11151 | coronin 1A | 16p11.2 | Chr16, NC_000016.10 (30183602..30189076) |
5475 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | STK4/6789 | serine/threonine kinase 4 | 20q13.12 | Chr20, NC_000020.11 (44966512..45080021) |
113510 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | PNP/4860 | purine nucleoside phosphorylase | 14q11.2 | Chr14, NC_000014.9 (20469406..20477089) |
7684 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | LCK/3932 | LCK proto-oncogene, Src family tyrosine kinase | 1p35.2 | Chr1, NC_000001.11 (32251265..32286165) |
34901 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 20 | FOXN1/8456 | forkhead box N1 | 17q11.2 | Chr17, NC_000017.11 (28506348..28538900) |
32553 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 21 | CD3E/916 | CD3 epsilon subunit of T-cell receptor complex | 11q23.3 | Chr11, NC_000011.10 (118304730..118316173) |
11444 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 22 | CD3D/915 | CD3 delta subunit of T-cell receptor complex | 11q23.3 | Chr11, NC_000011.10 (118338954..118342705, complement) |
3752 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||