Genes in panel

Likely inborn error of metabolism - targeted testing not possible


Red List (low evidence)

UQCRH (ubiquinol-cytochrome c reductase hinge protein)
EnsemblGeneIds (GRCh38): ENSG00000173660
EnsemblGeneIds (GRCh37): ENSG00000173660
OMIM: 613844, Gene2Phenotype
UQCRH is in 4 panels

1 review

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature; good candidate gene for complex III deficiency (encodes a subunit of the enzyme)
Created: 6 Feb 2016, 10:48 p.m.


History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: UQCRH was added gene: UQCRH was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: UQCRH was set to Unknown Phenotypes for gene: UQCRH were set to No OMIM phenotype