Mitochondrial disorders

Gene: ETFB

Green List (high evidence)

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

• 12815589
• 7912128

Green List (high evidence)

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

• 7912128
• 12815589