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Possible mitochondrial disorder - nuclear genes

Gene: UQCRB

Green List (high evidence)

UQCRB (ubiquinol-cytochrome c reductase binding protein)
EnsemblGeneIds (GRCh38): ENSG00000156467
EnsemblGeneIds (GRCh37): ENSG00000156467
OMIM: 191330, Gene2Phenotype
UQCRB is in 11 panels

4 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 3, 615158

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.
Created: 4 Feb 2019, 1:36 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, 2:19 p.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 2:12 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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single report in the literature
Created: 3 Feb 2016, 5:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

10 May 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: uqcrb has been classified as Green List (High Evidence).

10 May 2019, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: UQCRB were set to

10 May 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: uqcrb has been classified as Green List (High Evidence).

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: uqcrb has been classified as Amber List (Moderate Evidence).

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: UQCRB was added gene: UQCRB was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green 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