Ataxia - paediatric
Gene: GRID2

GRID2 (glutamate ionotropic receptor delta type subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000152208
EnsemblGeneIds (GRCh37): ENSG00000152208
OMIM: 602368, Gene2Phenotype
GRID2 is in 6 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Established association, with CNVs reported
Created: 16 May 2022, 2:10 a.m. | Last Modified: 16 May 2022, 2:10 a.m.

Panel Version: 0.14343

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 18 MIM#616204

Publications

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

Created: 16 May 2022, 2:10 a.m.
Last Modified: 16 May 2022, 2:10 a.m.
Panel version: Imported from Mendeliome panel version 0.14343

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital
Expert Review Green

Phenotypes

Spinocerebellar ataxia, autosomal recessive 18, 616204

OMIM

602368

Clinvar variants

Variants in GRID2

Penetrance

None

Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GRID2 was added gene: GRID2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRID2 were set to Spinocerebellar ataxia, autosomal recessive 18, 616204

Ataxia - paediatric Gene: GRID2