Mitochondrial disorders
Gene: GARS

GARS (glycyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000106105
EnsemblGeneIds (GRCh37): ENSG00000106105
OMIM: 600287, Gene2Phenotype
GARS is in 9 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for GARS is GARS1
Created: 6 Sep 2019, 1:46 p.m. | Last Modified: 6 Sep 2019, 1:46 p.m.

Panel Version: 1.485

Created: 6 Sep 2019, 1:46 p.m.
Last Modified: 6 Sep 2019, 1:46 p.m.
Panel version: 1.485

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM.
Created: 2 Mar 2016, 11:59 a.m.

Comment on list classification: Promoted from red to green as has 1 green review for this panel, and gas 4 green reviews on the Charcot-Marie Tooth disease panel. Disease association is within OMIM.
Created: 2 Mar 2016, 11:59 a.m.

Created: 2 Mar 2016, 11:58 a.m.

Panel version: 0.409

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: 0.37

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Victorian Clinical Genetics Services
Expert Review Green
Expert list
Expert

Phenotypes

Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Charcot-Marie-Tooth disease, type 2D
Neuropathy, distal hereditary motor, type VA

Tags

treatable new-gene-name

OMIM

600287

Clinvar variants

Variants in GARS

Penetrance

Complete

Panels with this gene

History Filter Activity

18 Dec 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: GARS.

6 Sep 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag treatable tag was added to gene: GARS.

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to GARS. Panel: Mitochondrial disorders

2 Mar 2016, Gel status: 4