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STRs in panel
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Inborn errors of metabolism

Gene: FLAD1

Green List (high evidence)

FLAD1 (flavin adenine dinucleotide synthetase 1)
EnsemblGeneIds (GRCh38): ENSG00000160688
EnsemblGeneIds (GRCh37): ENSG00000160688
OMIM: 610595, Gene2Phenotype
FLAD1 is in 7 panels

3 reviews

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
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Multiple acyl-CoA dehydrogenase deficiencies (MADDs)
OMIM
610595
Clinvar variants
Variants in FLAD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: FLAD1 was added gene: FLAD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLAD1 were set to PubMed: 27259049 Phenotypes for gene: FLAD1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Multiple acyl-CoA dehydrogenase deficiencies (MADDs)