1. Panels
  2. Malignant Hyperthermia Susceptibility
  3. CACNA1S
STRs in panel
Prev Next
Regions in panel
Prev Next

Malignant Hyperthermia Susceptibility

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 15 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Gain of function variants are the second most common cause of malignant hyperthermia susceptibility.
Sources: Expert list
Created: 6 Oct 2020, 6:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Malignant hyperthermia susceptibility 5} MIM#601887

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Oct 2020, 6:47 a.m.

Panel version: 0.4

History Filter Activity

6 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cacna1s has been classified as Green List (High Evidence).

6 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cacna1s has been classified as Green List (High Evidence).

6 Oct 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CACNA1S was added gene: CACNA1S was added to Malignant Hyperthermia Susceptibility. Sources: Expert list Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1S were set to 20301325 Phenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5} MIM#601887 Mode of pathogenicity for gene: CACNA1S was set to Other Review for gene: CACNA1S was set to GREEN