Skeletal Muscle Channelopathies
Gene: CLCN1

CLCN1 (chloride voltage-gated channel 1)
EnsemblGeneIds (GRCh38): ENSG00000188037
EnsemblGeneIds (GRCh37): ENSG00000188037
OMIM: 118425, Gene2Phenotype
CLCN1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The muscle chloride channel CLCN1 regulates the electric excitability of the skeletal muscle membrane. Skeletal muscle has an unusually high resting Cl(-) conductance and in vitro studies suggest that reduction of this conductance causes electrical instability and resulting myotonia in both humans and animal models.

Both mono allelic and bi-allelic variants cause disease, multiple families reported.
Created: 16 Jan 2021, 11:47 p.m. | Last Modified: 16 Jan 2021, 11:47 p.m.

Panel Version: 0.18

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Created: 16 Jan 2021, 11:47 p.m.
Last Modified: 16 Jan 2021, 11:47 p.m.
Panel version: 0.18

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Myotonia congenita, dominant, 160800
Hyperkalemic Periodic Paralysis
Myotonia Congenita
Myotonia
Myotonia congenita, recessive, 255700
Myotonia levior, recessive

OMIM

118425

Clinvar variants

Variants in CLCN1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: clcn1 has been classified as Green List (High Evidence).

16 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLCN1 were set to

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CLCN1 was added gene: CLCN1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CLCN1 were set to Myotonia congenita, dominant, 160800; Hyperkalemic Periodic Paralysis; Myotonia Congenita; Myotonia; Myotonia congenita, recessive, 255700; Myotonia levior, recessive

Skeletal Muscle Channelopathies Gene: CLCN1