GRIN2B

glutamate ionotropic receptor NMDA type subunit 2B
OMIM: 138252, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green GRIN2B in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.201 Component of the following Super Panels: Malformations of cortical development_Superpanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Phenotypes GRIN2B-related neurodevelopmental disorder Mental retardation, autosomal dominant 6, MIM# 613970
Green GRIN2B in Angelman Rett like syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.13	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Mental retardation, autosomal dominant 6, MIM# 613970 Developmental and epileptic encephalopathy 27, MIM# 616139
Green GRIN2B in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.224	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 6, MIM# 613970 Epileptic encephalopathy, early infantile, 27, MIM# 616139
Green GRIN2B in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Cerebral Palsy Developmental and epileptic encephalopathy 27 MIM# 616139 Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM# 613970
Green GRIN2B in Mendeliome Version 1.3512	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 6, MIM# 613970 Epileptic encephalopathy, early infantile, 27, MIM# 616139
Green GRIN2B in Neurotransmitter Defects Level 2: Neurology and neurodevelopmental disorders Version 1.7 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Glutamate neurotransmitter disorders Complex neurodevelopmental disorder MONDO:0100038
Green GRIN2B in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mental retardation, autosomal dominant 6, MIM# 613970 Epileptic encephalopathy, early infantile, 27, MIM# 616139
Green GRIN2B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 6, MIM# 613970 Epileptic encephalopathy, early infantile, 27, MIM# 616139
Green GRIN2B in Fetal anomalies Version 1.465	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 6, MIM# 613970 Epileptic encephalopathy, early infantile, 27, MIM# 616139