Intellectual disability update Jan 2018
Gene: GRIA1

GRIA1 (glutamate ionotropic receptor AMPA type subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000155511
EnsemblGeneIds (GRCh37): ENSG00000155511
OMIM: 138248, Gene2Phenotype
GRIA1 is in 2 panels

2 reviews

Helen Brittain (Genomics England Curator)

Comment on list classification: Phenotype perhaps too mild in reported cases. Further evidence would assist.
Created: 8 Mar 2018, 1:35 p.m.

Created: 8 Mar 2018, 1:35 p.m.

Panel version: 0.441

Sarah Leigh (Genomics England Curator)

Comment on mode of pathogenicity: Single pathogenic GOF variant identified p.(A636T)
Created: 6 Mar 2018, 6:15 p.m.

Not associated with phenotype in OMIM or G2P. Single gof variant reported in at least 6 unrelated cases all with autistic syndrome disorder and 4 with features of ID. The variants appear to be de novo in two cases. Supporting functional studies provided in PMID 28628100.
Reported as De novo variant in severe ID case (de Ligt 2012 PMID 23033978) and as a candidate ID gene (Grozeva 2015 PMID 26350204, Gilessen 2014 PMID 24896178)

Created: 6 Mar 2018, 5:24 p.m.

Created: 6 Mar 2018, 5:24 p.m.

Panel version: 0.370

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber

Phenotypes

Intellectual disability

Tags

watchlist Autism Spectrum Disorder

OMIM

138248

Clinvar variants

Variants in GRIA1

Penetrance

None

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

14 Mar 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GRIA1 were set to Intellectual disability

8 Mar 2018, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

8 Mar 2018, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Mar 2018, Gel status: 3