GABBR2

gamma-aminobutyric acid type B receptor subunit 2
OMIM: 607340, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red GABBR2 in Autism


Version 0.15

review Not set
Sources
  • Expert Review Red
  • SFARI

Red GABBR2 in DDG2P


Version 1.148

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY

Green GABBR2 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 1.405

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert Review
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • Rett syndrome
  • Epileptic encephalopathy, early infantile, 59, 617904

Green GABBR2 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1098

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • Rett syndrome
  • Neurodevelopmental disorder with poor language and loss of hand skills, 617903
Tags
  • missense