Hyperkalemic Periodic Paralysis(Familial hyperkalemic periodic paralysis) 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 | SCN4A/6329 | sodium voltage-gated channel alpha subunit 4 | 17q23.3 | Chr17, NC_000017.11 (63938554..63972918, complement) |
34365 nt | 24 | 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 Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities