Likely inborn error of metabolism - targeted testing not possible
Gene: DARS2
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 G2P and OMIM.Created: 10 Feb 2016, 12:03 p.m.
Comment on list classification: Both reveiwers agree this gene should be promoted from red to green.Created: 10 Feb 2016, 12:02 p.m.
Source NHS GMS was added to DARS2. Source London North GLH was added to DARS2.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: DARS2 Publications for gene DARS2 were changed from to 27604308
gene: DARS2 was added gene: DARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)