Genomics England

GRIN1

glutamate ionotropic receptor NMDA type subunit 1

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Childhood onset dystonia or chorea or related movement disorder 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
Green in Fetal anomalies 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
Green in Genetic epilepsy syndromes 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
Green in Intellectual disability 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