Hereditary ataxia

Gene: CLCN2

Green List (high evidence)

CLCN2 (chloride voltage-gated channel 2)
EnsemblGeneIds (GRCh38): ENSG00000114859
EnsemblGeneIds (GRCh37): ENSG00000114859
OMIM: 600570, Gene2Phenotype
CLCN2 is in 12 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotypes in OMIM, not in G2P. At least 4 biallelic variants reported in adult (n= 3) and childhood (n=2) onset Leukoencephalopathy with ataxia 615651. Variable levels of cognitive difficulties reported (PMID 23707145)
Created: 6 Feb 2018, 10:22 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukoencephalopathy with ataxia, 615651
  • {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628
  • {Epilepsy, juvenile absence, susceptibility to, 2}, 607628
  • {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628
OMIM
600570
Clinvar variants
Variants in CLCN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Feb 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

6 Feb 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CLCN2 was added to Hereditary ataxia panel. Sources: Literature

6 Feb 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CLCN2 was created by Sarah Leigh