Cardiomyopathy_Paediatric
Gene: ETFDHEnsemblGeneIds (GRCh38): ENSG00000171503
EnsemblGeneIds (GRCh37): ENSG00000171503
OMIM: 231675, Gene2Phenotype
ETFDH is in 18 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- MetBioNet
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II)
- Glutaric acidemia IIC
- Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- HCM
- ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation)
- Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia
- Disorders of ubiquinone metabolism and biosynthesis
- GLUTARIC ACIDURIA TYPE 2C
- OMIM
- 231675
- Clinvar variants
- Variants in ETFDH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Fatty Acid Oxidation Defects
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Hyperammonaemia
- Prepair 500+
- Callosome
- Vitamin metabolism disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ETFDH was added gene: ETFDH was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,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 Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Glutaric acidemia IIC; Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); HCM; ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation); Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; Disorders of ubiquinone metabolism and biosynthesis; GLUTARIC ACIDURIA TYPE 2C