Research panel - Severe Paediatric Disorders
Gene: GRIA2

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

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Added disease association added in OMIM.
Created: 15 Jul 2020, 2:16 p.m. | Last Modified: 15 Jul 2020, 2:16 p.m.

Panel Version: 1.9

Created: 15 Jul 2020, 2:16 p.m.
Last Modified: 15 Jul 2020, 2:16 p.m.
Panel version: 1.9

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GRIA2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Epileptic encephalopathy and intellectual disability ; Mode of inheritance:
Created: 20 Feb 2020, 5:20 p.m. | Last Modified: 20 Feb 2020, 5:20 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:20 p.m.
Last Modified: 20 Feb 2020, 5:20 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Neurodevelopmental disorder with language impairment and behavioral abnormalities, OMIM:618917
neurodevelopmental disorder with language impairment and behavioral abnormalities, MONDO:0030060

OMIM

138247

Clinvar variants

Variants in GRIA2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Feb 2023, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GRIA2 were set to 30847515

23 Feb 2023, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GRIA2 were changed from Epileptic encephalopathy and intellectual disability; Neurodevelopmental disorder with language impairment and behavioral abnormalities MIM#618917 to Neurodevelopmental disorder with language impairment and behavioral abnormalities, OMIM:618917; neurodevelopmental disorder with language impairment and behavioral abnormalities, MONDO:0030060

15 Jul 2020, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: GRIA2 were changed from Epileptic encephalopathy and intellectual disability to Epileptic encephalopathy and intellectual disability; Neurodevelopmental disorder with language impairment and behavioral abnormalities MIM#618917

21 Feb 2020, Gel status: 3