Intellectual disability update Jan 2018

Gene: GRIA2

Red List (low evidence)

GRIA2 (glutamate ionotropic receptor AMPA type subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000120251
EnsemblGeneIds (GRCh37): ENSG00000120251
OMIM: 138247, Gene2Phenotype
GRIA2 is in 3 panels

1 review

Sarah Leigh (Genomics England Curator)

Not associated with phenotype in OMIM or G2P. Reported as a candidate ID gene (Grozeva 2015 PMID 26350204, Gilessen 2014 PMID 24896178). GRIA2 knockout mice displayed strong spatial working memory impairment (PMID 28725178)
Created: 6 Mar 2018, 6:46 p.m.

Details

Sources
  • Expert Review Red
OMIM
138247
Clinvar variants
Variants in GRIA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Mar 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GRIA2 were set to 28725178; 26350204; 24896178

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GRIA2 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

GRIA2 was created by Ellen McDonagh