1. Genes and Genomic Entities
  2. GABBR2

GABBR2

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green GABBR2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • 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
    • Developmental and epileptic encephalopathy 59, OMIM:617904
    Green GABBR2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    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
    • Developmental and epileptic encephalopathy 59, OMIM:617904
    • eurodevelopmental disorder with poor language and loss of hand skills, OMIM:617903
    Tags
    • missense