Genomics England
GMS Panels
Panels
Genes and Entities

GRIA2

glutamate ionotropic receptor AMPA type subunit 2
OMIM: 138247
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with language impairment and behavioral abnormalities, OMIM:618917, neurodevelopmental disorder with language impairment and behavioral abnormalities, MONDO:0030060