CLCN4

chloride voltage-gated channel 4
OMIM: 302910, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CLCN4 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.198

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Raynaud-Claes syndrome, MIM# 300114
  • autism
  • intellectual disability
  • hypoplasia or agenesis of the corpus callosum
  • bipolar

Red CLCN4 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Raynaud-Claes syndrome MIM#300114

Green CLCN4 in Mendeliome


Version 1.1891

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Raynaud-Claes syndrome, MIM#300114
  • intellectual disability
  • epilepsy
  • autistic features
  • mood disorders
  • cerebral white matter changes
  • progressive appendicular spasticity

Green CLCN4 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Raynaud-Claes syndrome, MIM#300114
    • intellectual disability
    • epilepsy
    • autistic features
    • mood disorders
    • cerebral white matter changes
    • progressive appendicular spasticity

    Green CLCN4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Raynaud-Claes syndrome, MIM#300114
    • intellectual disability
    • epilepsy
    • autistic features
    • mood disorders
    • cerebral white matter changes
    • progressive appendicular spasticity

    Green CLCN4 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Raynaud-Claes syndrome, MIM #300114

    Green CLCN4 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Raynaud-Claes syndrome, MIM #300114