GABRB3

gamma-aminobutyric acid type A receptor beta3 subunit
OMIM: 137192, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber GABRB3 in Autism


Version 0.15

Component of the following Super Panels:

  • TEST - Superpanel v2.5
  • review Not set
    Sources
    • Expert Review Amber
    • SFARI

    Red GABRB3 in Fetal anomalies


    Version 0.352

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHIES
    • CHILDHOOD ABSENCE EPILEPSY TYPE 5

    Green GABRB3 in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.436
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHIES
    • CHILDHOOD ABSENCE EPILEPSY TYPE 5 612269

    Green GABRB3 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.425

    Component of the following Super Panels:

  • Epilepsy - early onset or syndromic v2.925
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • Expert
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Epilepsy, childhood absence, susceptibility to, 5
    • EPILEPTIC ENCEPHALOPATHIES

    Green GABRB3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1102

    Component of the following Super Panels:

  • Paediatric disorders v4.436
  • White matter disorders - childhood onset v4.233
  • Hypotonic infant with a likely central cause v3.1053
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • CHILDHOOD ABSENCE EPILEPSY TYPE 5