Congenital myopathy
Gene: CACNA1S
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.
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
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.
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
Phenotypes for gene: CACNA1S were changed from congenital myopathy to Congenital myopathy, MONDO:0019952
Source NHS GMS was added to CACNA1S.
Source London South GLH was added to CACNA1S. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for CACNA1S were set to 28012042
This gene has been classified as Green List (High Evidence).
CACNA1S was created by anna.sarkozy
CACNA1S was added to Congenital myopathypanel. Sources: Expert Review