Mitochondrial disorders
Gene: UQCRC2
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
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: 2.123
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: 29 Mar 2019, 2:14 p.m.
PMID 33865955: homozygous novel variant (p.Gly222Ala) reported. Functional studies showed impaired fibroblast respiratory chain function, western abnormalities, and altered mitochondrial ultrastructural abnormalities and of the mitochondrial network. Expression of a wild type vector in patient fibroblasts led to some restoration of function, but that part of the work was not stellar.Created: 3 Feb 2022, 10:49 p.m. | Last Modified: 3 Feb 2022, 10:49 p.m.
Panel Version: 2.85
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)
Publications for gene: UQCRC2 were set to 28275242; 23281071
Phenotypes for gene: UQCRC2 were changed from Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 5, 615160 to Mitochondrial complex III deficiency, nuclear type 5, OMIM:615160
Tag Q3_22_rating tag was added to gene: UQCRC2.
Mode of inheritance for gene: UQCRC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Publications for gene: UQCRC2 were set to 28275242
Publications for gene: UQCRC2 were set to
Victorian Clinical Genetics Services was added to UQCRC2. Panel: Mitochondrial disorders
UQCRC2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
UQCRC2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
UQCRC2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen