Possible mitochondrial disorder - nuclear genes

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

Panel Version: 2.5

Green List (high evidence)

Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green. Two unrelated families reported plus supporting functional evidence (PMID: 31883641)

Created: 30 Aug 2022, 9:28 a.m. | Last Modified: 30 Aug 2022, 9:28 a.m.

Panel Version: 1.103

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 31883641

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: no reports of human disease; complex III subunit

Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Publications

• none found

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.

Created: 29 Mar 2019, 2:21 p.m.

Green List (high evidence)

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: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

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.