CLCN6

chloride voltage-gated channel 6
OMIM: 602726, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CLCN6 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities, MIM# 619173
  • Neurodegeneration
  • Benign partial epilepsy
  • febrile seizures
  • NCL

Green CLCN6 in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 1.11

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Benign partial epilepsy
    • febrile seizures
    • NCL

    Green CLCN6 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodegeneration with brain iron accumulation 5, MIM# 300894

    Green CLCN6 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities, MIM# 619173
    • Developmental delay
    • neurodegeneration