Skeletal muscle channelopathy
Gene: CACNA1S

CACNA1S (calcium voltage-gated channel subunit alpha1 S)
EnsemblGeneIds (GRCh38): ENSG00000081248
EnsemblGeneIds (GRCh37): ENSG00000081248
OMIM: 114208, Gene2Phenotype
CACNA1S is in 9 panels

3 reviews

Eleanor Williams (Genomics England Curator)

PMID: 28012042 - Shartner et al 2017 - report 11 individuals with congenital myopathy from 7 unrelated families (Caucasian, Argentinean, or Vietnamese) and variants in CACNA1S identified through exome sequencing. The s from origin were included in this study. There were 3 sporadic cases (2 compound het, 1 het), 2 families with dominant inheritance, and 2 families with recessive inheritance . 10 different variants were identified.
Created: 17 Mar 2021, 1:37 p.m. | Last Modified: 17 Mar 2021, 1:37 p.m.

Panel Version: 1.20

Created: 17 Mar 2021, 1:37 p.m.
Last Modified: 17 Mar 2021, 1:37 p.m.
Panel version: 1.20

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:57 p.m.

Created: 28 Apr 2019, 5:07 p.m.

Panel version: 0.7

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypokalaemic periodic paralysis, type I, 170400 (Dominant); Congenital myopathy (Dominant & recessive)

Publications

Matthews et al 2009 Neurology 72, 1544-7 PMID:19118277. Schartner et al 2017 Acta Neuropathol 133, 517-533 PMID: 28012042

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

Created: 28 Apr 2019, 5:05 p.m.

Panel version: 0.15

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
London North GLH

Phenotypes

Congenital myopathy, MONDO:0019952
Hypokalaemic periodic paralysis, type I, OMIM:170400

OMIM

114208

Clinvar variants

Variants in CACNA1S

Penetrance

None

Publications

Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CACNA1S were changed from Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I OMIM:170400 (Dominant) to Congenital myopathy, MONDO:0019952; Hypokalaemic periodic paralysis, type I, OMIM:170400

16 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CACNA1S were changed from Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I, 170400 (Dominant) to Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I OMIM:170400 (Dominant)

25 Oct 2019, Gel status: 3