Hypokalemic Periodic Paralysis, Type 1(Westphall disease) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal dominant 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 | CACNA1S/779 | calcium voltage-gated channel subunit alpha1 S | 1q32.1 | Chr1, NC_000001.11 (201039512..201112426, complement) |
72915 nt | 44 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | CLCN1/1180 | chloride voltage-gated channel 1 | 7q34 | Chr7, NC_000007.14 (143316111..143352083) |
35973 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |