Possible mitochondrial disorder - nuclear genes
Gene: MARS2
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 25, 616430; Spastic ataxia 3, autosomal recessive, 611390
Missense variants in this gene reported for Combined oxidative phosphorylation deficiency 25.Created: 30 Nov 2016, 10:14 a.m.
Comment on mode of inheritance: Confirmed on OMIM.Created: 15 Mar 2016, 8:36 a.m.
Comment on list classification: Two reviewers suggesting that this gene should be green: Carl Fratter also suggests this should be green, therefore promoted from red to green.Created: 15 Mar 2016, 8:36 a.m.
gene: MARS2 was added gene: MARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive, 611390; ?Combined oxidative phosphorylation deficiency 25, 616430