CLCN2

chloride voltage-gated channel 2
OMIM: 600570, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green CLCN2 in White matter disorders and cerebral calcification - childhood onset


Level 2: Neurology
Version 8.7
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Leukoencephalopathy with ataxia, OMIM:615651
    Green CLCN2 in Ataxia and cerebellar anomalies - childhood onset


    Level 2: Neurology
    Version 9.32
    Latest signed off version: v9.22 (12 Aug 2026)

    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 Leukodystrophy, adult onset


    Level 2: Neurology
    Version 7.9
    Latest signed off version: v7.8 (12 Aug 2026)

    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 1.345

    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 1.186

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukoencephalopathy with ataxia, OMIM:615651
    Green CLCN2 in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • 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 2: Neurology
    Version 9.73
    Latest signed off version: v9.56 (12 Aug 2026)

    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 2: Developmental disorders
    Version 11.26
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • 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, adult onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • 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 Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH