Skeletal Muscle Channelopathies
Gene: CLCN1

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

5 reviews

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

Green List (high evidence)

Publications

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

Created: 22 Feb 2017, 3:38 p.m.

Panel version: 0.62

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

Green List (high evidence)

Publications

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

Created: 22 Feb 2017, 3:31 p.m.

Panel version: 0.62

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Changed complete penetrance to incomplete
Created: 21 Jan 2017, 12:45 p.m.

Created: 21 Jan 2017, 12:45 p.m.

Panel version: 0.32

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Can have reduced penetrance.
Created: 10 Jan 2017, 11:35 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dominant myotonia congenita; recessive myotonia congenita

Publications

Created: 10 Jan 2017, 11:35 a.m.

Panel version: 0.22

Ellen McDonagh (Genomics England Curator)

Is on the Muscle Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 2:42 p.m.

Comment on mode of inheritance: Changed to both due to evidence in OMIM.
Created: 10 Jun 2016, 2:24 p.m.

Comment on list classification: This gene is in the genetic muscle channel diseases section in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, for testing of myotonia congentia, one of the main skeletal muscle channelopathies.
Created: 10 Jun 2016, 2:24 p.m.

Created: 10 Jun 2016, 2:22 p.m.

Panel version: 0.6

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Eligibility statement prior genetic testing
UKGTN
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

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

OMIM

118425

Clinvar variants

Variants in CLCN1

Penetrance

Incomplete

Publications

Panels with this gene