Mitochondrial disease
Gene: ETFBEnsemblGeneIds (GRCh38): ENSG00000105379
EnsemblGeneIds (GRCh37): ENSG00000105379
OMIM: 130410, Gene2Phenotype
ETFB is in 15 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
The enzyme encoded by this gene is required for electron transfer to the main respiratory chain in the mitochondria. >3 cases reported. Very similar phenotypes to ETFA and ETFDH.
Sources: LiteratureCreated: 27 Feb 2020, 1:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric acidemia IIB MIM#231680; Multiple acyl-CoA dehydrogenase deficiency (MADD)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Glutaric acidemia IIB MIM#231680
- Multiple acyl-CoA dehydrogenase deficiency (MADD)
- Tags
- OMIM
- 130410
- Clinvar variants
- Variants in ETFB
- 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
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: ETFB.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: etfb has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: etfb 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: ETFB was added gene: ETFB was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFB were set to 12815589; 7912128 Phenotypes for gene: ETFB were set to Glutaric acidemia IIB MIM#231680; Multiple acyl-CoA dehydrogenase deficiency (MADD) Review for gene: ETFB was set to GREEN