CLCN2

chloride voltage-gated channel 2
OMIM: 600570
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Epilepsy, juvenile absence, susceptibility to, 2}, 607628, {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628, {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628, Leukoencephalopathy with ataxia, 615651
R-numbers: R54
Signed-off version 2.13
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628, {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628, Leukoencephalopathy with ataxia, 615651, {Epilepsy, juvenile absence, susceptibility to, 2}, 607628
R-numbers: R58
Signed-off version 2.178
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Epilepsy, juvenile absence, susceptibility to, 2}, OMIM:607628, {Epilepsy, idiopathic generalized, susceptibility to, 11}, OMIM:607628, {Epilepsy, juvenile myoclonic, susceptibility to, 8}, OMIM:607628, Leukoencephalopathy with ataxia, OMIM:615651
R-numbers: R62
Signed-off version 1.25
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with ataxia, 615651
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with ataxia, General Leukodystrophy & Mitochondrial Leukoencephalopathy, Chloride Ion Channel 2(ClC-2) related leukoencephalopathy with intramyelinic oedema