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  2. Likely inborn error of metabolism
  3. ETFDH
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Likely inborn error of metabolism

Gene: ETFDH

Green List (high evidence)
ETFDH (electron transfer flavoprotein dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000171503
EnsemblGeneIds (GRCh37): ENSG00000171503
OMIM: 231675, Gene2Phenotype
ETFDH is in 18 panels

3 reviews

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

Publications

Created: 13 Jan 2017, 4:12 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.76

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green as a green review and it is a confirmed DD gene in G2P for Glutaric aciduria type 2C.
Created: 2 Mar 2016, 11:50 a.m.
Created: 2 Mar 2016, 11:50 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.400

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • GLUTARIC ACIDURIA TYPE 2C
  • Glutaric acidemia IIC
  • Disorders of ubiquinone metabolism and biosynthesis
  • ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation)
OMIM
231675
Clinvar variants
Variants in ETFDH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ETFDH. Source London North GLH was added to ETFDH.

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

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes GLUTARIC ACIDURIA TYPE 2C; Glutaric acidemia IIC; Disorders of ubiquinone metabolism and biosynthesis for gene: ETFDH

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ETFDH was added gene: ETFDH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFDH were set to 27604308; 24816252 Phenotypes for gene: ETFDH were set to Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; GLUTARIC ACIDURIA TYPE 2C; Glutaric acidemia IIC; ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation)