1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. CACNA1S
STRs in panel
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Congenital muscular dystrophy and 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 9 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.
Created: 30 Apr 2019, 10:09 a.m.

Copied from panel: Congenital myopathy v3.22

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

Created: 30 Apr 2019, 10:05 a.m.

Copied from panel: Congenital myopathy v3.22

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.
Created: 7 Mar 2017, 2:47 p.m.

Copied from panel: Congenital myopathy v3.22

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

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.22

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • London South GLH
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital myopathy, MONDO:0019952
OMIM
114208
Clinvar variants
Variants in CACNA1S
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: CACNA1S was added gene: CACNA1S was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review Green,London South GLH,Expert Review Mode of inheritance for gene: CACNA1S was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CACNA1S were set to 28012042 Phenotypes for gene: CACNA1S were set to Congenital myopathy, MONDO:0019952 Penetrance for gene: CACNA1S were set to Complete