Rhabdomyolysis and metabolic muscle disorders

Gene: CACNA1S

Green List (high evidence)

CACNA1S (calcium voltage-gated channel subunit alpha1 S)
EnsemblGeneIds (GRCh38): ENSG00000081248
EnsemblGeneIds (GRCh37): ENSG00000081248
OMIM: 114208, Gene2Phenotype
CACNA1S is in 8 panels

2 reviews

Ros Quinlivan (UCLH)

Green List (high evidence)

Phenotypes
malignant hyperthermia

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.

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

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

4 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Jan 2017, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CACNA1S were set to 25735680; 28011884; 19825159

4 Jan 2017, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CACNA1S were set to {Malignant hyperthermia susceptibility 5}, 601887

5 Dec 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CACNA1S were set to Hypokalemic periodic paralysis, type 1, 170400; {Malignant hyperthermia susceptibility 5}, 601887; {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580

27 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1S was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: UKGTN

27 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CACNA1S was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1S was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Illumina TruGenome Clinical Sequencing Services

27 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1S was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Radboud University Medical Center, Nijmegen