Hereditary Spastic Paraplegia - 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

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Comment when marking as ready: Deletion not detectable using exome sequencing and only one reported case with spastic paraplegia. This gene is associated with Spinocerebellar ataxia, autosomal recessive 18, 616204.
Created: 31 Dec 2019, 5:42 a.m. | Last Modified: 31 Dec 2019, 5:42 a.m.

Panel Version: 0.3

One case with a de novo partial deletion of exon1 of GRID2 with a complicated spastic paraplegia phenotype.
Sources: Expert list
Created: 31 Dec 2019, 5:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Complicated spastic paraplegia

Publications

24122788

Created: 31 Dec 2019, 5:41 a.m.

Panel version: 0.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Expert list

Phenotypes

Complicated spastic paraplegia

OMIM

602368

Clinvar variants

Variants in GRID2

Penetrance

None

Publications

24122788

Panels with this gene

History Filter Activity

31 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: grid2 has been classified as Red List (Low Evidence).

31 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GRID2 was added gene: GRID2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: GRID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRID2 were set to 24122788 Phenotypes for gene: GRID2 were set to Complicated spastic paraplegia Review for gene: GRID2 was set to RED

Hereditary Spastic Paraplegia - paediatric Gene: GRID2