Renal Tubulopathies and related disorders
Gene: CACNA1S

CACNA1S (calcium voltage-gated channel subunit alpha1 S)
EnsemblGeneIds (GRCh38): ENSG00000081248
EnsemblGeneIds (GRCh37): ENSG00000081248
OMIM: 114208, Gene2Phenotype
CACNA1S is in 15 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Well established gene-disease association, episodic disorder.
Hypokalaemia as a clinical feature.
Created: 2 Dec 2022, 12:09 a.m. | Last Modified: 2 Dec 2022, 12:09 a.m.

Panel Version: 0.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypokalemic periodic paralysis, type 1, MIM# 170400

Publications

PMID: 11591859

Created: 2 Dec 2022, 12:09 a.m.
Last Modified: 2 Dec 2022, 12:09 a.m.
Panel version: 0.15

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
KidGen_AldoHypertension v38.1.0

Phenotypes

Hypokalemic periodic paralysis, type 1, MIM# 170400

OMIM

114208

Clinvar variants

Variants in CACNA1S

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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 Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1S were set to 11591859; 28012042 Phenotypes for gene: CACNA1S were set to Hypokalemic periodic paralysis, type 1, MIM# 170400

Renal Tubulopathies and related disorders Gene: CACNA1S