Hereditary ataxia
Gene: CLCN2EnsemblGeneIds (GRCh38): ENSG00000114859
EnsemblGeneIds (GRCh37): ENSG00000114859
OMIM: 600570, Gene2Phenotype
CLCN2 is in 10 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: MOI has been changed from 'Both mono- and biallelic' to 'Biallelic' only. Ataxia is a frequent feature of CLCN2-related Leukoencephalopathy (MIM# 615651) which is caused by biallelic variants. Autosomal dominant pathogenic variants are also associated with hyperaldosteronism (MIM# 605635) and susceptibility to idiopathic epilepsy (MIM# 607628) but neither of these phenotypes include ataxia.Created: 15 Oct 2021, 10:42 a.m. | Last Modified: 15 Oct 2021, 10:42 a.m.
Panel Version: 1.242
Sarah Leigh (Genomics England Curator)
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
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Leukoencephalopathy with ataxia, OMIM:615651
- OMIM
- 600570
- Clinvar variants
- Variants in CLCN2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Adult onset leukodystrophy
- Inherited white matter disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CLCN2 were changed from 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 to Leukoencephalopathy with ataxia, OMIM:615651
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CLCN2 were set to 23707145; 19191339
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: CLCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)CLCN2 was added to Hereditary ataxia panel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)CLCN2 was created by Sarah Leigh