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 0.189 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	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 1.10	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 0.198	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 1.356	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 1.1891	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	review	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 1.33 Component of the following Super Panels: Progressive Neurological Conditions	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 0.6063	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 1.255	review	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