Genes in panel
Regions in panel
Prev Next

Intellectual disability

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 8 panels

4 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.

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.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_omim_20150205_movement . Main mutation mechanism : NA
Created: 27 Jul 2017, 6:26 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : omim_20150205_movement; sfari_20150206; Nijmegen_ID_candidates; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • omim.org

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 12:41 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 18, 616204
OMIM
602368
Clinvar variants
Variants in GRID2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Mar 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

12 Mar 2018, Gel status: 4

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: 4

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to GRID2. Panel: Intellectual disability Publications for gene GRID2 was set to ['28856174', '24078737', '23611888', '7792064', '20395510']

20 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

20 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

GRID2 was created by BRIDGE

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

GRID2 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene