White matter disorders and cerebral calcification - narrow panel
Gene: CLCN2

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

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Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Leukoencephalopathy with ataxia, OMIM:615651

OMIM

600570

Clinvar variants

Variants in CLCN2

Penetrance

None

Publications

25655951

Panels with this gene

History Filter Activity

15 Oct 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CLCN2 were changed from Leukoencephalopathy with ataxia; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Chloride Ion Channel 2(ClC-2) related leukoencephalopathy with intramyelinic oedema to Leukoencephalopathy with ataxia, OMIM:615651

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CLCN2 was added gene: CLCN2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCN2 were set to 25655951 Phenotypes for gene: CLCN2 were set to Leukoencephalopathy with ataxia; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Chloride Ion Channel 2(ClC-2) related leukoencephalopathy with intramyelinic oedema

White matter disorders and cerebral calcification - narrow panel Gene: CLCN2