Skeletal muscle channelopathy
Gene: CLCN1
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
Myotonia congenita, dominant, 160800; Myotonia congenita, recessive, 255700
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CLCN1 were changed from Myotonia congenita, dominant, 160800; Myotonia congenita, recessive, 255700 to Myotonia congenita, dominant OMIM:160800; Myotonia congenita, recessive OMIM:255700
Publications for gene CLCN1 were changed from to 17932099
Mode of inheritance for gene CLCN1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Myotonia congenita, dominant, 160800; Myotonia congenita, recessive, 255700 for gene: CLCN1
Source Expert Review Green was added to CLCN1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to CLCN1.
gene: CLCN1 was added gene: CLCN1 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: CLCN1 was set to