Congenital myopathy

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 10 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypokalemic periodic paralyisis type 1 170400: congenital myopathy

Publications

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

Helen Brittain (Genomics England Curator)

Comment when marking as ready: 11 patients from 7 families in above PMID with perinatal hypotonia and weakness. AR / AD inheritance observed. Appropriate for inclusion.
Created: 7 Mar 2017, 2:47 p.m.

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

it is going to be added in the new diagnostic panel
Created: 6 Mar 2017, 12:14 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
congenital myopathy

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
Phenotypes
  • congenital myopathy
OMIM
114208
Clinvar variants
Variants in CACNA1S
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CACNA1S.

30 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to CACNA1S. Rating Changed from Green List (high evidence) to Green List (high evidence)

7 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Mar 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for CACNA1S were set to 28012042

7 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Mar 2017, Gel status: 0

Created

Anna Sarkozy (Great Ormond Street Hospital)

CACNA1S was created by anna.sarkozy

6 Mar 2017, Gel status: 0

Added New Source

Anna Sarkozy (Great Ormond Street Hospital)

CACNA1S was added to Congenital myopathypanel. Sources: Expert Review