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Undiagnosed metabolic disorders

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

3 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

Promoted from Red to Green. UQCRB is associated with an appropriate phenotype on OMIM but not in Gene2Phenotype. There are >3 unrelated cases reported in the literature. Therefore, enough evidence for this gene to be promoted to Green status.
Created: 14 Oct 2019, 3:09 p.m. | Last Modified: 14 Oct 2019, 3:09 p.m.
Panel Version: 1.380

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 3, 615158

Publications

Sarah Leigh (Genomics England Curator)

Phenotypes
Mitochondrial complex III deficiency, nuclear type 3 615158

Publications

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Phenotype appropriate (metabolic decompensation) but only one family reported to date
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 3 615158

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
  • Mitochondrial complex III deficiency, nuclear type 3 615158
OMIM
191330
Clinvar variants
Variants in UQCRB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

11 Apr 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: UQCRB were set to 27604308

27 Feb 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

24 Feb 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

UQCRB was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Red Model of inheritance for gene UQCRB was set to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

UQCRB was added to Undiagnosed metabolic disorderspanel. Sources: Literature

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

UQCRB was created by sleigh