Intellectual disability update Jan 2018
Gene: CLCN2EnsemblGeneIds (GRCh38): ENSG00000114859
EnsemblGeneIds (GRCh37): ENSG00000114859
OMIM: 600570, Gene2Phenotype
CLCN2 is in 10 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: 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: 2 Jan 2018, 3:27 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
- 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
- OMIM
- 600570
- Clinvar variants
- Variants in CLCN2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset leukodystrophy
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for CLCN2 were set to 23707145; 19191339
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CLCN2 were set to 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
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for CLCN2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CLCN2 was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber
Created
Ellen McDonagh (Genomics England Curator)CLCN2 was created by Ellen McDonagh