Skeletal muscle channelopathy
Gene: CACNA1SPMID: 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
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.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypokalaemic periodic paralysis, type I, 170400 (Dominant); Congenital myopathy (Dominant & recessive)
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
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)
Publications for gene CACNA1S were changed from to 28012042; 19118277
Mode of inheritance for gene CACNA1S was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I, 170400 (Dominant) for gene: CACNA1S
Source Expert Review Green was added to CACNA1S. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to CACNA1S.
gene: CACNA1S was added gene: CACNA1S was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: CACNA1S was set to