GRIN2D

glutamate ionotropic receptor NMDA type subunit 2D
OMIM: 602717, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green GRIN2D in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental and epileptic encephalopathy 46 MIM#617162

Green GRIN2D 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 GRIN2D 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
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Epileptic encephalopathy, early infantile, 46, MIM# 617162
    • intellectual disability

    Green GRIN2D 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
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 46, MIM# 617162
    • intellectual disability

    Red GRIN2D in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 46, MIM# 617162
    • intellectual disability