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 8.0	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 Signed-off version 9.56	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 8.0	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: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	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 - Paediatric disorders Signed-off version 8.6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970