GABRA1

gamma-aminobutyric acid type A receptor alpha1 subunit
OMIM: 137160, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber GABRA1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • JUVENILE MYOCLONIC EPILEPSY
Green GABRA1 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
    • JUVENILE MYOCLONIC EPILEPSY 611136
    • EPILEPTIC ENCEPHALOPATHY
    Green GABRA1 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, 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
    Phenotypes
    • {Epilepsy, childhood absence, susceptibility to, 4} 611136
    • {Epilepsy, juvenile myoclonic, susceptibility to, 5} 611136
    Green GABRA1 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
    Phenotypes
    • JUVENILE MYOCLONIC EPILEPSY