1. Genes and Genomic Entities
  2. GRIN2B

GRIN2B

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green GRIN2B in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.26
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970
    Green GRIN2B in Autism


    Version 0.36

    		review Not set
    Sources
    • Expert Review Green
    • SFARI
    Phenotypes
    • ASD, DD/NDD, EPS, ADHD, ID, EP
    Green GRIN2B in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970
    • Developmental and epileptic encephalopathy 27, OMIM:616139
    Green GRIN2B in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EPILEPTIC ENCEPHALOPATHY
    • AUTISM 209850
    • MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 613970
    Green GRIN2B in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • UKGTN
    • Expert
    • Expert Review Green
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970
    • Developmental and epileptic encephalopathy 27, OMIM:616139
    Green GRIN2B in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970
    • Developmental and epileptic encephalopathy 27, OMIM:616139
    Green GRIN2B in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 27, 616139
    • Mental retardation, autosomal dominant 6, 613970