GRIK2

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green GRIK2 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal recessive, 6 MIM# 611092
  • Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580

Green GRIK2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mental retardation, autosomal recessive, 6 MIM# 611092
    • Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580

    Green GRIK2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Mental retardation, autosomal recessive, 6 MIM# 611092
    • Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580

    Amber GRIK2 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580