GRIN2A

glutamate ionotropic receptor NMDA type subunit 2A
OMIM: 138253
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LANDAU-KLEFFNER SYNDROME 245570, EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS 613971
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy, focal, with speech disorder and with or without mental retardation, EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS, LANDAU-KLEFFNER SYNDROME
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epilepsy with neurodevelopmental defects, 613971, EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS