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Possible mitochondrial disorder - nuclear genes

Gene: FLAD1

Green List (high evidence)

FLAD1 (flavin adenine dinucleotide synthetase 1)
EnsemblGeneIds (GRCh38): ENSG00000160688
EnsemblGeneIds (GRCh37): ENSG00000160688
OMIM: 610595, Gene2Phenotype
FLAD1 is in 8 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

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.

Ellen Thomas (Genomics England Curator)

Comment on list classification: Promote at next panel review due to new 2016 paper.
Created: 11 Oct 2016, 6:45 p.m.

Shamima Rahman (UCL Institute of Child Health)

I don't know

flavin adenine dinucleotide synthetase 1;

single mutation report in literature, with little clinical information;

no functional characterisation;

confirmation needed
Created: 6 Feb 2016, 11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100
OMIM
610595
Clinvar variants
Variants in FLAD1
Penetrance
None
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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