Rhabdomyolysis and metabolic muscle disorders
Gene: CACNA1S
Phenotypes
malignant hyperthermia
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}, 188580Created: 4 Jan 2017, 10:27 a.m.
Phenotypes for gene: CACNA1S were changed from {Malignant hyperthermia susceptibility 5}, 601887 to {Malignant hyperthermia susceptibility 5}, OMIM:601887
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
Publications for CACNA1S were set to 25735680; 28011884; 19825159
Phenotypes for CACNA1S were set to {Malignant hyperthermia susceptibility 5}, 601887
Phenotypes for CACNA1S were set to Hypokalemic periodic paralysis, type 1, 170400; {Malignant hyperthermia susceptibility 5}, 601887; {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580
CACNA1S was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: UKGTN
Model of inheritance for gene CACNA1S was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CACNA1S was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Illumina TruGenome Clinical Sequencing Services
CACNA1S was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Radboud University Medical Center, Nijmegen