Possible mitochondrial disorder - nuclear genes
Gene: FLAD1
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
Phenotypes
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100
Comment on list classification: Promoted to green due to new evidence; PMID: 27259049 reports clinically relevant variants in 9 individuals from 6 different countries with Multiple acyl-CoA dehydrogenase deficiencies (MADDs).Created: 1 Feb 2017, 8:45 a.m.
Comment on list classification: Promote at next panel review due to new 2016 paper.Created: 11 Oct 2016, 6:45 p.m.
flavin adenine dinucleotide synthetase 1;
single mutation report in literature, with little clinical information;
no functional characterisation;
confirmation neededCreated: 6 Feb 2016, 11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
gene: FLAD1 was added gene: FLAD1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100