Likely inborn error of metabolism - targeted testing not possible
Gene: MARS2Missense 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.
Source NHS GMS was added to MARS2. Source London North GLH was added to MARS2.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Spastic Ataxia 13, autosomal recessive, 611390; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); ?Combined oxidative phosphorylation deficiency 25 for gene: MARS2 Publications for gene MARS2 were changed from 25754315; PMID: 22448145 to 27604308
gene: MARS2 was added gene: MARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS2 were set to 25754315; PMID: 22448145 Phenotypes for gene: MARS2 were set to Spastic Ataxia 13, autosomal recessive, 611390; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Combined oxidative phosphorylation deficiency 25