Rhabdomyolysis and metabolic muscle disorders
Gene: CACNA1S

CACNA1S (calcium voltage-gated channel subunit alpha1 S)
EnsemblGeneIds (GRCh38): ENSG00000081248
EnsemblGeneIds (GRCh37): ENSG00000081248
OMIM: 114208, Gene2Phenotype
CACNA1S is in 9 panels

2 reviews

Ros Quinlivan (UCLH)

Green List (high evidence)

Phenotypes
malignant hyperthermia

Created: 4 Jan 2017, 11:20 a.m.

Panel version: 0.81

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least seven variants reported in different populations, functional studies reported for some of the variants and evidence for incomplete penetrance and suggestion of role of >1 apparently polymorphic variants acting together to result in pathogenicity.
Created: 4 Jan 2017, 10:37 a.m.

Comment on phenotypes: Also associated with Hypokalemic periodic paralysis, type 1, 170400; {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580
Created: 4 Jan 2017, 10:27 a.m.

Created: 4 Jan 2017, 10:27 a.m.

Panel version: 0.78

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
UKGTN
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

{Malignant hyperthermia susceptibility 5}, OMIM:601887

OMIM

114208

Clinvar variants

Variants in CACNA1S

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

13 Jul 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CACNA1S were changed from {Malignant hyperthermia susceptibility 5}, 601887 to {Malignant hyperthermia susceptibility 5}, OMIM:601887

4 Jan 2017, Gel status: 4