CACNA1S

calcium voltage-gated channel subunit alpha1 S
OMIM: 114208
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.34
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Malignant hyperthermia susceptibility 5}, 601887
R-numbers: R76
Signed-off version 1.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy (Dominant & recessive), Hypokalaemic periodic paralysis, type I, 170400 (Dominant)