Skeletal muscle channelopathy
Gene: CLCN1

CLCN1 (chloride voltage-gated channel 1)
EnsemblGeneIds (GRCh38): ENSG00000188037
EnsemblGeneIds (GRCh37): ENSG00000188037
OMIM: 118425, Gene2Phenotype
CLCN1 is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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.

Created: 28 Apr 2019, 5:07 p.m.

Panel version: 0.7

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myotonia congenita, dominant, 160800; Myotonia congenita, recessive, 255700

Publications

Fialho et al 2007 Brain 130, 3265-74 PMID: 17932099

Variants in this GENE are reported as part of current diagnostic practice

Created: 28 Apr 2019, 5:05 p.m.

Panel version: 0.15

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
London North GLH

Phenotypes

Myotonia congenita, dominant OMIM:160800
Myotonia congenita, recessive OMIM:255700

OMIM

118425

Clinvar variants

Variants in CLCN1

Penetrance

None

Publications

17932099

Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

25 Oct 2019, Gel status: 3