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Genetic epilepsy syndromes

Gene: CLCN2

Red List (low evidence)

CLCN2 (chloride voltage-gated channel 2)
EnsemblGeneIds (GRCh38): ENSG00000114859
EnsemblGeneIds (GRCh37): ENSG00000114859
OMIM: 600570, Gene2Phenotype
CLCN2 is in 11 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

AD epilepsy - idiopathic generalised 11 (EIG11), juvenile absence 2 (EJA2), juvenille myoclonic 8 (EJM8). Sander et al, 2 sibs with juvenile absence epilepsy, Haug et al 2003 identified a het missense variant. Carried by another sib with generalised spike-wave discharges on EEG and dad reportedly had unclassified seizures in chldhood but has severe alcoholism so uncertain. Kleefus-Lie et al, 2009 - re-evaluated Sander and Haug which threw doubt on the Haug et al paper and Niemeyer et al 2010 said no evidence for a role of CLCN2 variants in idiopathic generalised epilepsy. Saint-Martin et al, 2009 - het mutation in 2 sibs of Tunisian origin not seen in a no of controls. Also 2 German sibs with idiopathic generalised epilepsy missense het variant diff to before. In both families unaff dad had mutation, therefore suggesting reduced penetrance/other factors required.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; Hyperaldosteronism, familial, type II, 605635; Leukoencephalopathy with ataxia, 615651

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Controversy regarding association of CLCN2 variants, with PMID 20037607 refuting the report of CLCN2 variants in idiopathic generalized epilepsy in PMID 19710712
Created: 9 Apr 2018, 4:01 p.m.
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
  • Expert Review Red
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Literature
  • 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 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CLCN2.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CLCN2.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with phenotypes in

26 Sep 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: clcn2 has been classified as Red List (Low Evidence).

26 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to CLCN2. Panel: Genetic Epilepsy Syndromes

9 Apr 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CLCN2 were set to 23707145; 19191339; 20037607; 19710712

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CLCN2 was added to Genetic Epilepsy Syndromes panel. Sources: Literature

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CLCN2 was created by Sarah Leigh