Mitochondrial disorder with complex III deficiency
Gene: UQCRB
Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studiesCreated: 10 May 2019, 10:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 3, 615158
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: UQCRB; 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 3, 615158
Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported (both with deletions) and supporting functional evidence.Created: 10 May 2019, 11:03 a.m.
Comment on list classification: Reviewer states this should be promoted to green, however there is only a single report in the literature. It is a probable DD gene for mitochondrial respiratory chain complex III deficiency.Created: 10 Feb 2016, 10:08 a.m.
Comment on mode of inheritance: Confirmed in OMIM and G2P.Created: 10 Feb 2016, 9:57 a.m.
single report in the literatureCreated: 3 Feb 2016, 5:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRB were changed from Mitochondrial complex III deficiency, nuclear type 3, 615158 to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Gene: uqcrb has been classified as Green List (High Evidence).
Gene: uqcrb has been classified as Green List (High Evidence).
Publications for gene: UQCRB were set to
Gene: uqcrb has been classified as Amber List (Moderate Evidence).
gene: UQCRB was added gene: UQCRB was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency, nuclear type 3, 615158