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Cardiomyopathies - including childhood onset

Gene: ETFDH

Red List (low evidence)

ETFDH (electron transfer flavoprotein dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000171503
EnsemblGeneIds (GRCh37): ENSG00000171503
OMIM: 231675, Gene2Phenotype
ETFDH is in 19 panels

2 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

This gene was included in Table 1 for a diagnostic test from the MetBioNet guideline - see publications field for URL to the guideline.
Created: 18 Apr 2019, 11:53 a.m.

Phenotypes
Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; HCM

Publications

  • National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • MetBioNet
  • MetBioNet
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • GLUTARIC ACIDURIA TYPE 2C
  • Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation)
  • Glutaric acidemia IIC
  • Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II)
  • Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia
  • HCM
OMIM
231675
Clinvar variants
Variants in ETFDH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 1

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Red was added to ETFDH. Source NHS GMS was added to ETFDH. Rating Changed from Green List (high evidence) to Red List (low evidence)

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: ETFDH was added gene: ETFDH was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFDH were set to 24816252; 27604308 Phenotypes for gene: ETFDH were set to Disorders of ubiquinone metabolism and biosynthesis; GLUTARIC ACIDURIA TYPE 2C; Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation); Glutaric acidemia IIC; Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; HCM