GABRB3

gamma-aminobutyric acid type A receptor beta3 subunit
OMIM: 137192
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EPILEPTIC ENCEPHALOPATHIES, CHILDHOOD ABSENCE EPILEPSY TYPE 5 612269
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy, childhood absence, susceptibility to, 5, EPILEPTIC ENCEPHALOPATHIES
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, NOT imprinted
Phenotypes
CHILDHOOD ABSENCE EPILEPSY TYPE 5