Possible mitochondrial disorder - nuclear genes
Gene: GARSAdded new-gene-name tag, new approved HGNC gene symbol for GARS is GARS1Created: 6 Sep 2019, 1:46 p.m. | Last Modified: 6 Sep 2019, 1:46 p.m.
Panel Version: 1.2
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
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.
Tag new-gene-name tag was added to gene: GARS.
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