Familial Genetic Generalised Epilepsies

Gene: CLCN2

Red List (low 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)

Red List (low evidence)

Associated with phenotypes in OMIM, not in G2P. At least 2 heterozygous variants reported in two unrelated families with idiopathic generalized epilepsy (PMID 19191339)
Created: 6 Feb 2018, 10:21 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
  • 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: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CLCN2 was added to Familial Genetic Generalised Epilepsies panel. Sources: Literature

6 Feb 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CLCN2 was created by Sarah Leigh