1. Panels
  2. Hereditary ataxia
  3. GRID2

Hereditary ataxia

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

1 review

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Loads of evidence in literature. Mode of inheritance: AR and rarely AD
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal recessive spinocerebellar ataxia 18 (#616204); Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015.

Publications

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

Created: 24 Nov 2015, 4:57 p.m.

Panel version: 0

Details

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

History Filter Activity

9 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GRID2 were changed from Autosomal recessive spinocerebellar ataxia 18 (#616204); Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015. to Spinocerebellar ataxia, autosomal recessive 18, 616204

9 Jan 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: GRID2 were set to PMID: 25841024

11 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

11 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

24 Nov 2015, Gel status: 0

Created

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

GRID2 was created by jonathan.williams

24 Nov 2015, Gel status: 0

Added New Source

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

GRID2 was added to Hereditary ataxiapanel. Sources: Expert Review