1. Genes and Genomic Entities
  2. CLCN3

CLCN3

chloride voltage-gated channel 3
OMIM: 600580, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green CLCN3 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.157
Latest signed off version: v6.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512
  • Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517
Green CLCN3 in DDG2P


Version 6.426
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CLCN3-related Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512
    • CLCN3-related Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517
    Green CLCN3 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.153
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

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

    		•  review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512
    • Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517
    Green CLCN3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.318
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512
    • Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517