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STRs in panel
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Inborn errors of metabolism

Gene: GARS

Green List (high evidence)

GARS (glycyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000106105
EnsemblGeneIds (GRCh37): ENSG00000106105
OMIM: 600287, Gene2Phenotype
GARS is in 11 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, 1:47 p.m. | Last Modified: 6 Sep 2019, 1:47 p.m.
Panel Version: 1.262

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Charcot-Marie-Tooth disease, type 2D
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Neuropathy, distal hereditary motor, type VA
Tags
new-gene-name
OMIM
600287
Clinvar variants
Variants in GARS
Penetrance
None
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

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

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Charcot-Marie-Tooth disease, type 2D; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Neuropathy, distal hereditary motor, type VA for gene: GARS

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: GARS was added gene: GARS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GARS were set to Charcot-Marie-Tooth disease, type 2D; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Neuropathy, distal hereditary motor, type VA