West Syndrome(Infantile epileptic spasms syndrome)
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Neuronal disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Neuronal 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 | 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 |
| 2 | CDKL5/6792 | cyclin dependent kinase like 5 | Xp22.13 | ChrX, NC_000023.11 (18425608..18653629) |
228022 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | TUBA1A/7846 | tubulin alpha 1a | 12q13.12 | Chr12, NC_000012.12 (49184795..49189080, complement) |
4286 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | SCN2A/6326 | sodium voltage-gated channel alpha subunit 2 | 2q24.3 | Chr2, NC_000002.12 (165239414..165392304) |
152891 nt | 31 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | DNM1/1759 | dynamin 1 | 9q34.11 | Chr9, NC_000009.12 (128203379..128255244) |
51866 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | WWOX/51741 | WW domain containing oxidoreductase | 16q23.1 | Chr16, NC_000016.10 (78099654..79212667) |
1113014 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||