Genomics England

GRIN1

glutamate ionotropic receptor NMDA type subunit 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Childhood onset dystonia, chorea or related movement disorder 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
Green in Early onset or syndromic epilepsy 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
Green in Fetal anomalies 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
Green in Intellectual disability 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
Green in Malformations of cortical development 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