Mitochondrial disorders
Gene: UQCRB
For completeness, additional families reported.Created: 13 Apr 2020, 8:15 a.m. | Last Modified: 13 Apr 2020, 8:15 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 3, 615158
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on publications: PMID: 12709789 (case report);PMID: 25446085 (functional study);PMID: 23454382 (functional study)Created: 23 May 2019, 3:49 p.m.
Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex III deficiency (Version 0.25).Created: 23 May 2019, 3:48 p.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
Publications for gene: UQCRB were set to 12709789; 25446085; 23454382; 28604960
Phenotypes for gene: UQCRB were changed from Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 3, 615158; Mitochondrial Diseases to Mitochondrial complex III deficiency, nuclear type 3, 615158
Publications for gene: UQCRB were set to 12709789; 25446085; 23454382
Publications for gene: UQCRB were set to PMID: 12709789 (case report); PMID: 25446085 (functional study); PMID: 23454382 (functional study)
Gene: uqcrb has been classified as Green List (High Evidence).
Source NHS GMS was added to UQCRB. Source Expert Review Green was added to UQCRB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Victorian Clinical Genetics Services was added to UQCRB. Panel: Mitochondrial disorders
Publications for UQCRB were set to PMID: 12709789 (case report); PMID: 25446085 (functional study); PMID: 23454382 (functional study);
Publications for UQCRB were set to PMID: 12709789
Phenotypes for UQCRB were set to Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 3, 615158; Mitochondrial Diseases
Mode of inheritance for UQCRB was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
UQCRB was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
UQCRB was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
UQCRB was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
UQCRB was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory