Likely inborn error of metabolism - targeted testing not possible
Gene: UQCRC2
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
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
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.
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
Variants in this GENE are reported as part of current diagnostic practice
single mutation report in literatureCreated: 6 Feb 2016, 10:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q3_22_rating was removed from gene: UQCRC2.
Source NHS GMS was added to UQCRC2. Source Expert Review Green was added to UQCRC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mode of inheritance for gene: UQCRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRC2 were set to 28275242; 23281071
Phenotypes for gene: UQCRC2 were changed from Mitochondrial complex III deficiency, nuclear type 5, 615160; Isolated complex III deficiency to Mitochondrial complex III deficiency, nuclear type 5, OMIM:615160
Tag Q3_22_rating tag was added to gene: UQCRC2.
Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Publications for gene: UQCRC2 were set to
Sarah Leigh: Associated with phenotype in O
gene: UQCRC2 was added gene: UQCRC2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: UQCRC2 was set to Unknown Phenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160; Isolated complex III deficiency