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Intellectual disability update Jan 2018

Gene: GRID2

Green List (high evidence)
GRID2 (glutamate ionotropic receptor delta type subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000152208
EnsemblGeneIds (GRCh37): ENSG00000152208
OMIM: 602368, Gene2Phenotype
GRID2 is in 7 panels

2 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases, all presenting with developmental delay in association with neurological features. Note that all cases to date have been identified as homozygous / compound heterozygous deletions, however as these have all been intragenic, there is sufficient evidence for causation. The spectrum of pathogenic variants remains to be confirmed but on the current evidence it would seem appropriate for inclusion.
Created: 5 Mar 2018, 11:58 a.m.
Created: 5 Mar 2018, 11:58 a.m.

Panel version: 0.298

Eleanor Williams (Genomics England Curator)

Comment on list classification: In OMIM GRID2 is associated with Spinocerebellar ataxia, autosomal recessive 18 (616204) only.

However, there are 3 publications (PubMed: 28856174;24078737;23611888) describing 4 independent families with probands with cerebellar ataxia and homozygous deletions covering GRID2 exons. Phenotype includes developmental delay (cognitive as well as physical).

In mouse Grid2 (GluD2) is found in Purkinje cells in the cerebellar cortex (PubMed: 7792064) and shows a similar expression pattern in the developing human cerebellum (PubMed: 24078737). Grid2 loss-of-function mouse mutants show ataxia and mild cerebellar volume loss (PubMed: 24078737). Grid2, along with Cbln1, has also been shown to be essential for synapse integrity in Purkinje cells in mouse (PubMed: 20395510).
Created: 20 Feb 2018, 4:31 p.m.
Created: 20 Feb 2018, 4:31 p.m.

Panel version: 0.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 18 616204
OMIM
602368
Clinvar variants
Variants in GRID2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Feb 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for GRID2 were set to Spinocerebellar ataxia, autosomal recessive 18 616204

20 Feb 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for GRID2 were set to 28856174; 24078737; 23611888; 7792064; 20395510

20 Feb 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for GRID2 was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2018, Gel status: 3

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Dec 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

GRID2 was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber

18 Dec 2017, Gel status: 2

Created

Ellen McDonagh (Genomics England Curator)

GRID2 was created by Ellen McDonagh