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 DDG2P


Version 1.44

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • JUVENILE MYOCLONIC EPILEPSY 611136
  • EPILEPTIC ENCEPHALOPATHY

Amber GABRA1 in Fetal anomalies


Version 0.250

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • JUVENILE MYOCLONIC EPILEPSY

Green GABRA1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.846

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • JUVENILE MYOCLONIC EPILEPSY

Green GABRA1 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 1.51

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • 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