Mitochondrial disorders

Gene: UQCRFS1

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.m.

Panel Version: 3.6

Green List (high evidence)

This gene was recently included on a gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) on behalf of GMS Mitochondrial providers, indicating that the rating should be upgraded from Amber to Green on Mitochondrial panels (R355 and R63). As there was sufficient supporting evidence for the change, the rating should also be updated to Green on this panel at the next GMS review. Two unrelated families reported plus supporting functional evidence (PMID: 31883641)

Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.

Panel Version: 2.123

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 10, OMIM: 618775

Publications

• 31883641

Green List (high evidence)

Two unrelated families reported plus functional evidence.

Created: 23 Mar 2020, 3:51 a.m. | Last Modified: 23 Mar 2020, 3:51 a.m.

Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial Complex III deficiency; lactic acidosis; fetal bradycardia; hypertrophic cardiomyopathy; alopecia totalis

Publications

• 31883641

I don't know

no mutation reports in literature; good candidate gene for complex III deficiency (encodes a subunit of the enzyme)

Created: 6 Feb 2016, 10:46 p.m.