Mitochondrial disorders
Gene: FLAD1Comment 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
Victorian Clinical Genetics Services was added to FLAD1. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for FLAD1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Multiple acyl-CoA dehydrogenase deficiencies (MADDs)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for FLAD1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
Publications for FLAD1 were set to PubMed: 27259049
FLAD1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list