Possible mitochondrial disorder - nuclear genesGene: TSFM
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Combined oxidative phosphorylation deficiency 3, 610505
Comment on list classification: Promotion of this gene from red to green on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel
Created: 21 Mar 2017, 10:23 a.m.
Comment on phenotypes: Multiple respiratory chain complex deficiencies (disorders of protein synthesis);
Created: 21 Mar 2017, 9:57 a.m.
gene: TSFM was added gene: TSFM was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505