GRIN1

glutamate ionotropic receptor NMDA type subunit 1
OMIM: 138249
PanelMode of inheritanceDetails
4 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 ENCEPHALOPATHY
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EPILEPTIC ENCEPHALOPATHY
R-numbers: R59
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820, NDHMSR, Mental retardation, autosomal dominant 8, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254, NDHMSD, early onset epileptic encephalopathies, involuntary movements, severe developmental delay, intellectual disability, EPILEPTIC ENCEPHALOPATHY
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820, NDHMSR, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254, NDHMSD, Mental retardation, autosomal dominant 8, 614254, EPILEPTIC ENCEPHALOPATHY