Likely inborn error of metabolism

Gene: UQCRC2

Green List (high evidence)

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

Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.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. Third case now identified with a novel homozygous variant plus functional data.

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

Panel Version: 2.265

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 5, OMIM: 615160

Publications

• 28275242
• 23281071
• 33865955

Comment on list classification: Promoted from Red to Amber due to two unrelated cases/families - though this is for the same missense variant.

Created: 24 Oct 2019, 9:52 a.m. | Last Modified: 24 Oct 2019, 9:52 a.m.

Panel Version: 1.379

Comment on list classification: Promoted from Red to Amber due to two unrelated cases/families - though this is for the same missense variant.

Created: 29 Mar 2019, 2:14 p.m.

I don't know

Please note second additional report, probably merits Amber.

Created: 1 Sep 2018, 5:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 5, MIM#615160

Publications

• 28275242

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

Green List (high evidence)

single mutation report in literature

Created: 6 Feb 2016, 10:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal