GABRG2

gamma-aminobutyric acid type A receptor gamma2 subunit
OMIM: 137164, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green GABRG2 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, 74 618396
  • Epilepsy, generalized, with febrile seizures plus, type 3 607681

Green GABRG2 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, 74 618396
    • Epilepsy, generalized, with febrile seizures plus, type 3 607681

    Green GABRG2 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, 74 618396
    • Epilepsy, generalized, with febrile seizures plus, type 3 607681

    Green GABRG2 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, 74 618396
    • Epilepsy, generalized, with febrile seizures plus, type 3 607681

    Amber GABRG2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • BabySeq Category C gene
    Phenotypes
    • Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681
    • Epileptic encephalopathy, early infantile, 74 MIM# 618396
    • Febrile seizures, familial, 8 MIM# 607681

    Red GABRG2 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, 74 618396
    • Epilepsy, generalized, with febrile seizures plus, type 3, 607681

    Red GABRG2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Epileptic encephalopathy, early infantile, 74 MIM# 618396
    • Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681
    • Febrile seizures, familial, 8 MIM# 607681