Mitochondrial disorders
Gene: FLAD1EnsemblGeneIds (GRCh38): ENSG00000160688
EnsemblGeneIds (GRCh37): ENSG00000160688
OMIM: 610595, Gene2Phenotype
FLAD1 is in 9 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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Expert list
- Phenotypes
-
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Multiple acyl-CoA dehydrogenase deficiencies (MADDs)
- OMIM
- 610595
- Clinvar variants
- Variants in FLAD1
- Penetrance
- Complete
- Publications
-
- PubMed: 27259049
- Panels with this gene
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to FLAD1. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for FLAD1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Multiple acyl-CoA dehydrogenase deficiencies (MADDs)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for FLAD1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen Thomas (Genomics England Curator)Publications for FLAD1 were set to PubMed: 27259049
Added New Source
Ellen McDonagh (Genomics England Curator)FLAD1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list