GABRA1

gamma-aminobutyric acid type A receptor alpha1 subunit
OMIM: 137160, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green GABRA1 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 19 615744
  • Rett syndrome
  • Rett-like phenotypes
  • idiopathic generalized Epilepsy
  • Dravet syndrome

Green GABRA1 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
    • Epileptic encephalopathy, early infantile, 19, MIM# 615744

    Green GABRA1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Epileptic encephalopathy, early infantile, 19 615744
    • Rett syndrome
    • Rett-like phenotypes
    • idiopathic generalized Epilepsy
    • Dravet syndrome

    Green GABRA1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Epileptic encephalopathy, early infantile, 19 615744
    • Rett syndrome
    • Rett-like phenotypes
    • idiopathic generalized Epilepsy
    • Dravet syndrome

    Red GABRA1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Epilepsy, idiopathic generalised

    Red GABRA1 in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Epileptic encephalopathy, early infantile, 19 615744
    • Rett syndrome
    • Rett-like phenotypes
    • idiopathic generalized Epilepsy
    • Dravet syndrome

    Red GABRA1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Epilepsy, idiopathic generalised