GRIK2

glutamate ionotropic receptor kainate type subunit 2
OMIM: 138244, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red GRIK2 in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Red GRIK2 in Fetal anomalies


Version 1.749
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6

Green GRIK2 in DDG2P


Version 2.50
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 611092

    Amber GRIK2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.452
    Latest signed off version: v2.2 (13 Feb 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Mental retardation, autosomal recessive, 6, OMIM:611092
    • non-syndromic neurodevelopmental disorder (NDD), autosomal dominant
    Tags
    • Q4_21_rating

    Green GRIK2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Mental retardation, autosomal recessive, 6, OMIM:611092
    • non-syndromic neurodevelopmental disorder (NDD), autosomal dominant
    Tags
    • Q4_21_MOI

    Green GRIK2 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, autosomal recessive, 6, 611092