Hereditary ataxia
Gene: CLCN2Comment 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
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
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
Publications for gene: CLCN2 were set to 23707145; 19191339
Mode of inheritance for gene: CLCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
CLCN2 was added to Hereditary ataxia panel. Sources: Literature
CLCN2 was created by Sarah Leigh