Genomics England

GRIN2B

glutamate ionotropic receptor NMDA type subunit 2B

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes EPILEPTIC ENCEPHALOPATHY, AUTISM 209850, MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 613970
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 6.9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970, Developmental and epileptic encephalopathy 27, OMIM:616139
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970, Developmental and epileptic encephalopathy 27, OMIM:616139
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970, Developmental and epileptic encephalopathy 27, OMIM:616139
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 6.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970