Congenital myopathy
Gene: CACNA1SEnsemblGeneIds (GRCh38): ENSG00000081248
EnsemblGeneIds (GRCh37): ENSG00000081248
OMIM: 114208, Gene2Phenotype
CACNA1S is in 9 panels
4 reviews
Louise Daugherty (Genomics England Curator)
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)
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)
it is going to be added in the new diagnostic panelCreated: 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, MONDO:0019952
- OMIM
- 114208
- Clinvar variants
- Variants in CACNA1S
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CACNA1S were changed from congenital myopathy to Congenital myopathy, MONDO:0019952
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CACNA1S.
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)
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for CACNA1S were set to 28012042
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Anna Sarkozy (Great Ormond Street Hospital)CACNA1S was created by anna.sarkozy
Added New Source
Anna Sarkozy (Great Ormond Street Hospital)CACNA1S was added to Congenital myopathypanel. Sources: Expert Review