Likely inborn error of metabolism - targeted testing not possible
Gene: FARS2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Confirmed on OMIM.Created: 10 Feb 2016, 12:16 p.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.Created: 10 Feb 2016, 12:16 p.m.
Source NHS GMS was added to FARS2. Source London North GLH was added to FARS2.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes 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 14, 614946 for gene: FARS2 Publications for gene FARS2 were changed from to 27604308
gene: FARS2 was added gene: FARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 14, 614946