Paediatric or syndromic cardiomyopathy
Gene: UQCRBEnsemblGeneIds (GRCh38): ENSG00000156467
EnsemblGeneIds (GRCh37): ENSG00000156467
OMIM: 191330, Gene2Phenotype
UQCRB is in 10 panels
4 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
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
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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
Ellen McDonagh (Genomics England Curator)
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.
Shamima Rahman (UCL Institute of Child Health)
single report in the literatureCreated: 3 Feb 2016, 5:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- MetBioNet
- NHS GMS
- Phenotypes
-
- Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
- OMIM
- 191330
- Clinvar variants
- Variants in UQCRB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Likely inborn error of metabolism
- Mitochondrial disorder with complex III deficiency
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: UQCRB were changed from Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to UQCRB. Rating Changed from Green List (high evidence) to Red List (low evidence)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: UQCRB was added gene: UQCRB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCRB were set to 28604960; 25446085; 12709789 Phenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency, nuclear type 3, 615158