GRIN1

glutamate ionotropic receptor NMDA type subunit 1
OMIM: 138249
PanelMode of inheritanceDetails
5 panels
R-numbers: R57
Signed-off version 2.6
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254, intellectual disability, autosomal dominant 8 MONDO:0013655, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820, neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254, intellectual disability, autosomal dominant 8 MONDO:0013655
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254, intellectual disability, autosomal dominant 8 MONDO:0013655, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820, neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
R-numbers: R59
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254, intellectual disability, autosomal dominant 8 MONDO:0013655, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820, neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254, intellectual disability, autosomal dominant 8 MONDO:0013655, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820, neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629