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  2. Newborns additional phenotypes panel 1
  3. CLCN1
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Newborns additional phenotypes panel 1

Gene: CLCN1

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 7 Jul 2023, 9:20 a.m. | Last Modified: 7 Jul 2023, 9:20 a.m.
Panel Version: 0.31
PMID: 34529042 - 223 case
Created: 7 Jul 2023, 9:20 a.m. | Last Modified: 7 Jul 2023, 9:20 a.m.
Panel Version: 0.31
Created: 7 Jul 2023, 9:20 a.m.
Last Modified: 7 Jul 2023, 9:20 a.m.
Panel version: 0.31

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Myotonia congenita, dominant
OMIM
118425
Clinvar variants
Variants in CLCN1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CLCN1. Added phenotypes Myotonia congenita, dominant for gene: CLCN1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: CLCN1 was added gene: CLCN1 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: CLCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CLCN1 were set to Myotonia congenita, dominant