Paediatric or syndromic cardiomyopathy
Gene: ETFDHEnsemblGeneIds (GRCh38): ENSG00000171503
EnsemblGeneIds (GRCh37): ENSG00000171503
OMIM: 231675, Gene2Phenotype
ETFDH is in 18 panels
2 reviews
Ivone Leong (Genomics England Curator)
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)
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
-
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Hereditary neuropathy
- Mitochondrial disorders
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Inherited white matter disorders
- Hyperammonaemia
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
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)
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