Genomics England
GMS Panels
Panels
Genes and Entities

GRIA2

glutamate ionotropic receptor AMPA type subunit 2
OMIM: 138247
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
GRIA2-related developmental disorder (monoallelic)
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with language impairment and behavioral abnormalities, OMIM:618917, neurodevelopmental disorder with language impairment and behavioral abnormalities, MONDO:0030060
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
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