Sudden Infant Death Syndrome
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic 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 | KCNQ1/3784 | potassium voltage-gated channel subfamily Q member 1 | 11p15.5 | Chr11, NC_000011.10 (2445008..2849105) |
404098 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | KCNH2/3757 | potassium voltage-gated channel subfamily H member 2 | 7q36.1 | Chr7, NC_000007.14 (150944961..150978321, complement) |
33361 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | SCN5A/6331 | sodium voltage-gated channel alpha subunit 5 | 3p22.2 | Chr3, NC_000003.12 (38548062..38649687, complement) |
101626 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | SCN4B/6330 | sodium voltage-gated channel beta subunit 4 | 11q23.3 | Chr11, NC_000011.10 (118133377..118152823, complement) |
19447 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | SCN1A/6323 | sodium voltage-gated channel alpha subunit 1 | 2q24.3 | Chr2, NC_000002.12 (165984641..166149161, complement) |
164521 nt | 31 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | DEPDC5/9681 | DEP domain containing 5, GATOR1 subcomplex subunit | 22q12.2 | Chr22, NC_000022.11 (31753968..31908033) |
154066 nt | 48 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | CALM2/805 | calmodulin 2 | 2p21 | Chr2, NC_000002.12 (47160082..47176936, complement) |
16855 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: OMIM GTR MedGen MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |