1. Genes and Genomic Entities
  2. GABBR2

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 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green GABBR2 in DDG2P


Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY
    Green GABBR2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.196
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.550
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 1.184

    		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