Possible mitochondrial disorder - nuclear genesGene: GFM1
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 1, 609060
Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 2 Mar 2016, 12:15 p.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a confirmed DD gene for combined oxidative phosphorylation deficiency 1.
Created: 2 Mar 2016, 12:14 p.m.
gene: GFM1 was added gene: GFM1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1, 609060