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  3. CACNA1S
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Pharmacogenomics_Paediatric

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two variants, c.520C>T; p.(Arg174Trp) and 3257G>A; p.(Arg1086His) have high level of evidence.
Sources: Expert list
Created: 1 Aug 2020, 2:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Malignant hyperthermia susceptibility 5}, MIM# 601887

Publications

Created: 1 Aug 2020, 2:02 a.m.

Panel version: 0.22

History Filter Activity

1 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CACNA1S was added gene: CACNA1S was added to Pharmacogenomics_Paediatric. 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 30499100 Phenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5}, MIM# 601887 Review for gene: CACNA1S was set to GREEN