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Severe Paediatric Disorders

Gene: GRIA2

Green List (high evidence)

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Epileptic encephalopathy and intellectual disability
  • Neurodevelopmental disorder with language impairment and behavioral abnormalities MIM#618917
OMIM
138247
Clinvar variants
Variants in GRIA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene GRIA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene GRIA2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epileptic encephalopathy and intellectual disability for gene: GRIA2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epileptic encephalopathy and intellectual disability for gene: GRIA2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epileptic encephalopathy and intellectual disability for gene: GRIA2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epileptic encephalopathy and intellectual disability for gene: GRIA2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to GRIA2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to GRIA2. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GRIA2 was added gene: GRIA2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: GRIA2 was set to