Inborn errors of metabolismGene: AARS2
Confirmed link to metabolic disease and not likely to be considered in first line metabolic testing and therefore appropriate for this panel
Created: 3 Jan 2017, 11:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on mode of inheritance: Source: OMIM and the publications (compound hets or homozygous).
Created: 10 Feb 2016, 10:24 a.m.
Comment on list classification: Reviewer suggests this should be promoted from red to green, and there are multiple cases reported in PMID: 25058219, and one in PMID: 25058219.
Created: 10 Feb 2016, 10:23 a.m.
Source NHS GMS was added to AARS2. Source London North GLH was added to AARS2.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Combined oxidative phosphorylation deficiency 8, 614096; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); infantile mitochondrial cardiomyopathy for gene: AARS2 Publications for gene AARS2 were changed from 25058219; PMID: 21549344 to 27604308
gene: AARS2 was added gene: AARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 25058219; PMID: 21549344 Phenotypes for gene: AARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 8, 614096; infantile mitochondrial cardiomyopathy