GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Hyperkalemic Periodic Paralysis(Familial hyperkalemic periodic paralysis)      Explore Disorder's Alias
An Autosomal dominant mode(s) within the Metabolic disorders category
Reported Pathogenic variants
Candidate Gene Information
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:      GARD          GTR          MalaCards          NORD     

Patient care services
Clinical Symptoms & Disabilities