Mitochondrial disease
Gene: ETFDHEnsemblGeneIds (GRCh38): ENSG00000171503
EnsemblGeneIds (GRCh37): ENSG00000171503
OMIM: 231675, Gene2Phenotype
ETFDH is in 18 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
This gene is required for electron transfer from mitochondrial flavin-containing dehydrogenases to the main respiratory chain. >3 cases reported.
Sources: Expert listCreated: 27 Feb 2020, 12:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric acidemia IIC MIM#231680; Multiple acyl-CoA dehydrogenase deficiency (MADD)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Glutaric acidemia IIC MIM#231680
- Multiple acyl-CoA dehydrogenase deficiency (MADD)
- Tags
- 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
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: ETFDH.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: etfdh has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: etfdh has been classified as Green List (High Evidence).
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 Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFDH were set to 19249206; 17412732 Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC MIM#231680; Multiple acyl-CoA dehydrogenase deficiency (MADD) Review for gene: ETFDH was set to GREEN