Limb girdle muscular dystrophy

Gene: CLCN1

Red List (low evidence)

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

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Created: 28 Nov 2019, 5:28 p.m. | Last Modified: 28 Nov 2019, 5:28 p.m.
Panel Version: 1.177

Chiara Marini Bettolo (NUTH)

Red List (low evidence)

muscle channelopathy. Myotonia congenita
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myotonia congenita

Publications

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myotonia congenita, dominant, 160800

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Myotonia congenita, dominant, 160800
OMIM
118425
Clinvar variants
Variants in CLCN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: clcn1 has been classified as Red List (Low Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CLCN1.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CLCN1.

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CLCN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Myotonia congenita, dominant, 160800 for gene: CLCN1 Publications for gene CLCN1 were changed from to 8112288; 7981750

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CLCN1 was added gene: CLCN1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: CLCN1 was set to