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 3.1	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: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Mental retardation, autosomal dominant 6, Epileptic encephalopathy, early infantile, 27, EPILEPTIC ENCEPHALOPATHY, AUTISM
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes AUTISM, EPILEPTIC ENCEPHALOPATHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Mental Retardation, Dominant, Mental retardation, autosomal dominant 6, 613970, AUTISM
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970