Likely inborn error of metabolism - targeted testing not possible
Gene: APTX
Definitely a green gene, but the link to mitochondrial disease seems indirect.Created: 27 Aug 2018, 9:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: Green review and confirmed DD gene.Created: 26 Feb 2016, 12:21 p.m.
Source NHS GMS was added to APTX. Source London North GLH was added to APTX.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Ataxia with oculomotor apraxia 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920; Disorders of ubiquinone metabolism and biosynthesis for gene: APTX
gene: APTX was added gene: APTX was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APTX were set to 27604308 Phenotypes for gene: APTX were set to Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Ataxia with oculomotor apraxia 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920; Disorders of ubiquinone metabolism and biosynthesis