Genomics England
GMS Panels
Panels
Genes and Entities

CACNA1S

calcium voltage-gated channel subunit alpha1 S
OMIM: 114208
PanelMode of inheritanceDetails
5 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Malignant hyperthermia susceptibility 5}, OMIM:601887
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy, MONDO:0019952
Green
in Malignant hyperthermia
R-numbers: R371
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Malignant hyperthermia susceptibility 5}, OMIM:601887
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Malignant hyperthermia susceptibility 5}, OMIM:601887
Green
in Skeletal muscle channelopathy
R-numbers: R76
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy, MONDO:0019952, Hypokalaemic periodic paralysis, type I, OMIM:170400