Skeletal Muscle Channelopathies

Gene: CLCN1

Green List (high evidence)

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

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

Arianna Tucci (Genomics England Curator)

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

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

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.

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

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.

21 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Jan 2017, Gel status: 4

Set publications

Arianna Tucci (Genomics England Curator)

Publications for CLCN1 were set to 11840191; 18337100; 22649220

21 Jan 2017, Gel status: 4

Set publications

Arianna Tucci (Genomics England Curator)

Publications for CLCN1 were set to 11840191; 18337100; 22649220

21 Jan 2017, Gel status: 4

Set publications

Arianna Tucci (Genomics England Curator)

Publications for CLCN1 were set to 11840191; 18337100; 22649220

10 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CLCN1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CLCN1 was added to Skeletal Muscle Channelopathiespanel. Sources: Eligibility statement prior genetic testing

7 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

CLCN1 was added to Skeletal Muscle Channelopathiespanel. Sources: UKGTN

7 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene CLCN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

7 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

CLCN1 was added to Skeletal Muscle Channelopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services

7 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

CLCN1 was added to Skeletal Muscle Channelopathiespanel. Sources: Radboud University Medical Center, Nijmegen