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

review Not set
Sources
  • Expert Review Amber
  • SFARI

Red GABRB3 in Fetal anomalies


Version 0.306

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 1.78

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 1.180

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • 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 2.967

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • CHILDHOOD ABSENCE EPILEPSY TYPE 5