Vitamin metabolism disorders
Gene: ETFA
ETFA (electron transfer flavoprotein alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000140374
EnsemblGeneIds (GRCh37): ENSG00000140374
OMIM: 608053, Gene2Phenotype
ETFA is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000140374
EnsemblGeneIds (GRCh37): ENSG00000140374
OMIM: 608053, Gene2Phenotype
ETFA is in 15 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
- 608053
- Clinvar variants
- Variants in ETFA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Fatty Acid Oxidation Defects
- 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: ETFA was added gene: ETFA was added to Vitamin metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFA were set to 1430199, 1882842, 21347544 Phenotypes for gene: ETFA were set to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Disorders of mitochondrial fatty acid oxidation