1. Genes and Genomic Entities
  2. CLCN2

CLCN2

chloride voltage-gated channel 2
OMIM: 600570, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green CLCN2 in White matter disorders and cerebral calcification - narrow panel


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Leukoencephalopathy with ataxia, OMIM:615651
    Green CLCN2 in Ataxia and cerebellar anomalies - narrow panel


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Leukoencephalopathy with ataxia, OMIM:615651
    Green CLCN2 in Adult onset leukodystrophy


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Leukoencephalopathy with ataxia, OMIM:615651
    Green CLCN2 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Leukoencephalopathy with ataxia, OMIM:615651
    Green CLCN2 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.180

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukoencephalopathy with ataxia, OMIM:615651
    Green CLCN2 in Adult onset neurodegenerative disorder


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Leukoencephalopathy with ataxia, OMIM:615651
    Red CLCN2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.10
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Red
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Literature
    • Literature
    Phenotypes
    • {Epilepsy, juvenile myoclonic, susceptibility to, 8}, OMIM:607628
    • {Epilepsy, juvenile absence, susceptibility to, 2}, OMIM:607628
    • {Epilepsy, idiopathic generalized, susceptibility to, 11}, OMIM:607628
    Amber CLCN2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Leukoencephalopathy with ataxia, OMIM:615651
    Green CLCN2 in Hereditary ataxia with onset in adulthood


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Leukoencephalopathy with ataxia, OMIM:615651
    Red CLCN2 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green CLCN2 in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukoencephalopathy with ataxia, 615651
    • Hyperaldosteronism, familial, type II, 605635
    • {Epilepsy, juvenile absence, susceptibility to, 2}, 607628
    • {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628
    • {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628