Mitochondrial disease
Gene: GARS

GARS (glycyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000106105
EnsemblGeneIds (GRCh37): ENSG00000106105
OMIM: 600287, Gene2Phenotype
GARS is in 3 panels

2 reviews

Chris Ciotta (Victorian Clinical Genetics Services)

Green List (high evidence)

Adding MONDO term for the bi-allelic multi-system mitochondrial disorder. No OMIM association
Created: 25 Nov 2024, 4:11 a.m. | Last Modified: 25 Nov 2024, 4:11 a.m.

Panel Version: 0.953

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mitochondrial disease (MONDO:0044970), GARS1-related

Created: 25 Nov 2024, 4:11 a.m.
Last Modified: 25 Nov 2024, 4:11 a.m.
Panel version: 0.953

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: New HGNC approved name is GARS1.
Created: 16 Oct 2020, 9:14 p.m. | Last Modified: 16 Oct 2020, 9:14 p.m.

Panel Version: 0.516

The GARS1 gene encodes glycyl-tRNA synthetase, an enzyme that is responsible for covalently attaching glycine to its cognate tRNA, which is essential for protein translation. Unlike most other tRNA synthetase genes, GARS1 encodes both the cytoplasmic and mitochondrial isoforms of the enzyme.

Mono-allelic variants in this gene have been linked to several neurological phenotypes, including CMT, dHMN and SMA. Multiple families reported, supportive mouse model.

Bi-allelic variants have been reported in two families with severe multi-system mitochondrial disorder, supportive functional evidence. PMID: 24669931;28594869.
Created: 16 Oct 2020, 9:12 p.m. | Last Modified: 16 Oct 2020, 9:12 p.m.

Panel Version: 0.513

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy, infantile, James type, MIM# 619042; Charcot-Marie-Tooth disease, type 2D, MIM# 601472; Neuronopathy, distal hereditary motor, type VA, MIM# 600794; Multi-system mitochondrial disorder

Publications

Created: 16 Oct 2020, 9:12 p.m.
Last Modified: 16 Oct 2020, 9:12 p.m.
Panel version: 0.513

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Mitochondrial disease (MONDO:0044970), GARS1-related
Spinal muscular atrophy, infantile, James type, MIM# 619042
Charcot-Marie-Tooth disease, type 2D, MIM# 601472
Neuronopathy, distal hereditary motor, type VA, MIM# 600794
Multi-system mitochondrial disorder

Tags

new gene name

OMIM

600287

Clinvar variants

Variants in GARS

Penetrance

None

Publications

Panels with this gene