1. Genes and Genomic Entities
  2. GABRD

GABRD

gamma-aminobutyric acid type A receptor delta subunit
OMIM: 137163, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green GABRD 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
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • GABRD-related neurodevelopmental disorder with epilepsy
    Tags
    • de novo
    Green GABRD in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    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
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert
    Phenotypes
    • {Epilepsy, idiopathic generalized, 10}, OMIM:613060
    • {Epilepsy, juvenile myoclonic, susceptibility to}, OMIM:613060
    • {Generalized epilepsy with febrile seizures plus, type 5, susceptibility to}, OMIM:613060
    Green GABRD in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • {Epilepsy, idiopathic generalized, 10}, OMIM:613060
    • {Epilepsy, juvenile myoclonic, susceptibility to}, OMIM:613060