GRIN1

glutamate ionotropic receptor NMDA type subunit 1
OMIM: 138249
PanelMode of inheritanceDetails
6 panels
R-numbers: R57
Signed-off version 4.3
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 4.3
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
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
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
R-numbers: R21, R412
Signed-off version 4.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
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:
  • - Cerebral malformation
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254, intellectual disability, autosomal dominant 8 MONDO:0013655