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  3. CACNA1S
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Malignant hyperthermia

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 9 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 16 Feb 2022, 1:53 p.m. | Last Modified: 16 Feb 2022, 1:53 p.m.
Panel Version: 0.4
Created: 16 Feb 2022, 1:53 p.m.
Last Modified: 16 Feb 2022, 1:53 p.m.
Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • {Malignant hyperthermia susceptibility 5}, OMIM:601887
OMIM
114208
Clinvar variants
Variants in CACNA1S
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jan 2022, Gel status: 3

Added New Source

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to CACNA1S.

11 Jan 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: CACNA1S was added gene: CACNA1S was added to Malignant hyperthermia. Sources: Expert Review Green Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1S were set to 31559918; 9199552; 11260227 Phenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5}, OMIM:601887