GABBR2

gamma-aminobutyric acid type B receptor subunit 2
OMIM: 607340
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EPILEPTIC ENCEPHALOPATHY, Rett syndrome, Epileptic encephalopathy, early infantile, 59, 617904
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EPILEPTIC ENCEPHALOPATHY, Rett syndrome, Neurodevelopmental disorder with poor language and loss of hand skills, 617903