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Hereditary Neuropathy_CMT - isolated

Gene: GARS

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

1 review

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, 8:16 p.m. | Last Modified: 16 Oct 2020, 8:16 p.m.
Panel Version: 0.59
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.
Created: 16 Oct 2020, 8:15 p.m. | Last Modified: 16 Oct 2020, 8:15 p.m.
Panel Version: 0.57

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 16 Oct 2020, 8:15 p.m.
Last Modified: 16 Oct 2020, 8:15 p.m.
Panel version: 0.57

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN, dHMN/dSMA
  • Spinal muscular atrophy, infantile, James type, MIM# 619042
  • Neuropathy, distal hereditary motor, type V, 600794
  • Charcot Marie Tooth disease, type 2D, 601472
Tags
new gene name
OMIM
600287
Clinvar variants
Variants in GARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gars has been classified as Green List (High Evidence).

16 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GARS were changed from HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472 to HMSN, dHMN/dSMA; Spinal muscular atrophy, infantile, James type, MIM# 619042; Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472

16 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GARS were set to

16 Oct 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GARS was added gene: GARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GARS were set to HMSN, dHMN/dSMA; Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472