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Intellectual disability

Gene: GRIA1

Amber List (moderate evidence)

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

5 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Difficult when novel genes are reported in large cohorts where multiple novel candidates are being put forward and additional phenotypic/segregation information is limited; however, note that three of the four studies are described as moderate-severe or severe ID cohorts.
Created: 6 Feb 2020, 10:43 p.m. | Last Modified: 6 Feb 2020, 10:43 p.m.
Panel Version: 3.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

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.

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.

Caroline Wright (Sanger)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review Red
Phenotypes
  • Intellectual disability
Tags
watchlist Autism Spectrum Disorder
OMIM
138248
Clinvar variants
Variants in GRIA1
Penetrance
Complete
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

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 2

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for GRIA1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

12 Mar 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to GRIA1. Panel: Intellectual disability Model of inheritance for gene GRIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene GRIA1 was set to ['28628100', '23033978', '26350204', '24896178']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GRIA1 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GRIA1 was added to Intellectual disabilitypanel. Sources: Expert Review Red