CACNA1S

calcium voltage-gated channel subunit alpha1 S
OMIM: 114208
PanelMode of inheritanceDetails
5 panels
R-numbers: R419
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Malignant hyperthermia susceptibility 5}, OMIM:601887
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
congenital myopathy
R-numbers: R371
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Malignant hyperthermia susceptibility 5}, OMIM:601887
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Malignant hyperthermia susceptibility 5}, OMIM:601887
R-numbers: R76
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy, MONDO:0019952, Hypokalaemic periodic paralysis, type I, OMIM:170400