Research panel - Severe Paediatric Disorders
Gene: CLCN2

CLCN2 (chloride voltage-gated channel 2)
EnsemblGeneIds (GRCh38): ENSG00000114859
EnsemblGeneIds (GRCh37): ENSG00000114859
OMIM: 600570, Gene2Phenotype
CLCN2 is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CLCN2; Recommended initial gene rating: Green List (high evidence); Phenotypes: {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3) | {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3) | {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3) | Hyperaldosteronism, familial, type II, 605635 (3) | Leukoencephalopathy with ataxia, 615651 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:17 p.m.
Last Modified: 20 Feb 2020, 5:17 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

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

OMIM

600570

Clinvar variants

Variants in CLCN2

Penetrance

None

Publications

30847515

Panels with this gene