Mitochondrial disorder with complex III deficiency
Gene: UQCRC2
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:46 a.m. | Last Modified: 1 Feb 2023, 11:46 a.m.
Panel Version: 1.19
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. Third case now identified with a novel homozygous variant plus functional data.Created: 30 Aug 2022, 9:31 a.m. | Last Modified: 30 Aug 2022, 9:31 a.m.
Panel Version: 1.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 5, OMIM: 615160
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 11:05 a.m.
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated families but same single mutation; functional studiesCreated: 10 May 2019, 10:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 5, 615160
Publications
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. Gene Symbol submitted: UQCRC2; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 5, 615160
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. Tag Q3_22_NHS_review was removed from gene: 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 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. Tag Q3_22_NHS_review tag was added to gene: UQCRC2.
Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Publications for gene: UQCRC2 were set to
Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
gene: UQCRC2 was added gene: UQCRC2 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: UQCRC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160