GABBR2

gamma-aminobutyric acid type B receptor subunit 2
OMIM: 607340, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red GABBR2 in Autism


Version 0.15

review Not set
Sources
  • Expert Review Red
  • SFARI

Red GABBR2 in DDG2P


Version 2.8
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY

    Green GABBR2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.69
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert Review
    • Expert Review Green
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY
    • Rett syndrome
    • Epileptic encephalopathy, early infantile, 59, 617904

    Green GABBR2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.73
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY
    • Rett syndrome
    • Neurodevelopmental disorder with poor language and loss of hand skills, 617903
    Tags
    • missense

    Green GABBR2 in Severe Paediatric Disorders


    Version 1.6

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with poor language and loss of hand skills, 617903
    • Epileptic encephalopathy, early infantile, 59, 617904