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Possible mitochondrial disorder - nuclear genes

Gene: GARS

Green List (high evidence)

GARS (glycyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000106105
EnsemblGeneIds (GRCh37): ENSG00000106105
OMIM: 600287, Gene2Phenotype
GARS is in 11 panels

4 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: 1.2

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

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

Phenotypes
Charcot-Marie-Tooth disease, type 2D, 601472; Neuropathy, distal hereditary motor, type VA, 600794

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, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Neuropathy, distal hereditary motor, type VA, 600794
  • Charcot-Marie-Tooth disease, type 2D, 601472
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.

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: GARS was added gene: GARS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GARS were set to Neuropathy, distal hereditary motor, type VA, 600794; Charcot-Marie-Tooth disease, type 2D, 601472