GABRD

gamma-aminobutyric acid type A receptor delta subunit
OMIM: 137163, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green GABRD in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Susceptibility to epilepsy, MIM#613060

Green GABRD in Neurotransmitter Defects


Level 2: Neurology and neurodevelopmental disorders
Version 1.7

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
    • Intellectual disability
    • Epilepsy
    • Susceptibility to epilepsy, MIM#613060

    Green GABRD in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual disability
    • Epilepsy
    • Susceptibility to epilepsy, MIM#613060

    Green GABRD 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
    • Intellectual disability
    • Epilepsy
    • Susceptibility to epilepsy, MIM#613060