Mitochondrial disorders
Gene: ETFB
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, we note ETFDH is Green.Created: 19 Mar 2020, 10:16 a.m. | Last Modified: 19 Mar 2020, 10:16 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric acidemia IIB MIM#231680; Multiple acyl-CoA dehydrogenase deficiency (MADD)
Publications
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. This gene is not associated with primary mitochondrial disease. Consensus opinion from the 3 specialist mitochondrial providers.Created: 11 Oct 2023, 9:52 a.m. | Last Modified: 11 Oct 2023, 9:52 a.m.
Panel Version: 4.95
Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. At least three ETFB variants have been reported in at least three cases.Created: 30 May 2023, 1:57 p.m. | Last Modified: 30 May 2023, 1:57 p.m.
Panel Version: 4.45
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 30 May 2023, 1:50 p.m. | Last Modified: 30 May 2023, 1:50 p.m.
Panel Version: 4.44
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Tag Q2_23_promote_green was removed from gene: ETFB.
Publications for gene: ETFB were set to 7912128; 12815589
Publications for gene: ETFB were set to
Tag Q2_23_promote_green tag was added to gene: ETFB.
Phenotypes for gene: ETFB were changed from Glutaric acidemia IIB ,231680 to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Gene: etfb has been classified as Amber List (Moderate Evidence).
gene: ETFB was added gene: ETFB was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFB were set to Glutaric acidemia IIB ,231680