Vitamin metabolism disorders
Gene: ETFDH
ETFDH (electron transfer flavoprotein dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000171503
EnsemblGeneIds (GRCh37): ENSG00000171503
OMIM: 231675, Gene2Phenotype
ETFDH is in 18 panels
EnsemblGeneIds (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
-
- Expert Review Green
- Phenotypes
-
- multiple acyl-CoA dehydrogenase deficiency MONDO:0009282
- Disorders of mitochondrial fatty acid oxidation
- 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
20 May 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ETFDH was added gene: ETFDH was added to Vitamin metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFDH were set to 17412732, 27038534, 19249206, 15710863, 32804429 Phenotypes for gene: ETFDH were set to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Disorders of mitochondrial fatty acid oxidation