Inherited white matter disorders
Gene: CLCN2Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. More than 3 cases with different variants reported in OMIM for Leukoencephalopathy with ataxia. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.Created: 12 Aug 2016, 7:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CLCN2 were changed from Chloride Ion Channel 2(ClC-2) related leukoencephalopathy with intramyelinic oedema; Leukoencephalopathy with ataxia; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Leukoencephalopathy with ataxia, OMIM:615651
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Publications for CLCN2 were set to 25655951
This gene has been classified as Green List (High Evidence).
Phenotypes for CLCN2 were set to Chloride Ion Channel 2(ClC-2) related leukoencephalopathy with intramyelinic oedema;Leukoencephalopathy with ataxia;General Leukodystrophy & Mitochondrial Leukoencephalopathy
CLCN2 was created by [email protected]
CLCN2 was added to Inherited white matter disorderspanel. Sources: Expert list