Leukodystrophy - adult onset
Gene: CLCN2

CLCN2 (chloride voltage-gated channel 2)
EnsemblGeneIds (GRCh38): ENSG00000114859
EnsemblGeneIds (GRCh37): ENSG00000114859
OMIM: 600570, Gene2Phenotype
CLCN2 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least six families reported, three with adult onset and three with childhood onset.
Created: 3 May 2020, 11:16 p.m. | Last Modified: 3 May 2020, 11:16 p.m.

Panel Version: 0.44

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with ataxia, MIM# 615651

Publications

23707145

Created: 3 May 2020, 11:16 p.m.
Last Modified: 3 May 2020, 11:16 p.m.
Panel version: 0.44

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Leukoencephalopathy with ataxia, 615651

OMIM

600570

Clinvar variants

Variants in CLCN2

Penetrance

None

Publications

23707145

Panels with this gene

History Filter Activity

3 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: clcn2 has been classified as Green List (High Evidence).

3 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLCN2 were set to

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CLCN2 was added gene: CLCN2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLCN2 were set to Leukoencephalopathy with ataxia, 615651

Leukodystrophy - adult onset Gene: CLCN2