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  3. UQCRH
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Mitochondrial disorder with complex III deficiency

Gene: UQCRH

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

4 reviews

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Created: 10 May 2019, 11:07 a.m.
Created: 10 May 2019, 11:07 a.m.

Panel version: 0.24

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case reported (poster at UK Neuromuscular conference 2019) with functional studies
Created: 10 May 2019, 10:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
No OMIM phenotype

Publications

  • none found

Created: 10 May 2019, 10:51 a.m.

Panel version: 0.16

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. Gene Symbol submitted: UQCRH; Suggested intial gene rating: Green.
Created: 1 Feb 2019, 4:33 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Created: 1 Feb 2019, 4:33 p.m.

Panel version: 0.3

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.
Created: 6 Feb 2016, 10:48 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
OMIM
613844
Clinvar variants
Variants in UQCRH
Penetrance
None
Panels with this gene

History Filter Activity

10 May 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

10 May 2019, Gel status: 2

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: UQCRH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

25 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

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

1 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: UQCRH was added gene: UQCRH was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: UQCRH was set to Unknown Phenotypes for gene: UQCRH were set to No OMIM phenotype