Likely inborn error of metabolism
Gene: UQCRFS1

UQCRFS1 (ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1)
EnsemblGeneIds (GRCh38): ENSG00000169021
EnsemblGeneIds (GRCh37): ENSG00000169021
OMIM: 191327, Gene2Phenotype
UQCRFS1 is in 6 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.

Panel Version: 3.6

Created: 1 Feb 2023, 10:24 a.m.
Last Modified: 1 Feb 2023, 10:24 a.m.
Panel version: 3.6

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene was recently included on a gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) on behalf of GMS Mitochondrial providers, indicating that the rating should be upgraded from Amber to Green on Mitochondrial panels (R355 and R63). As there was sufficient supporting evidence for the change, the rating should also be updated to Green on this panel at the next GMS review. Two unrelated families reported plus supporting functional evidence (PMID: 31883641)
Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.

Panel Version: 2.265

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 10, OMIM: 618775

Publications

31883641

Created: 30 Aug 2022, 9:08 a.m.
Last Modified: 30 Aug 2022, 9:08 a.m.
Panel version: 2.265

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, 10:46 p.m.

Created: 6 Feb 2016, 10:46 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775

OMIM

191327

Clinvar variants

Variants in UQCRFS1

Penetrance

None

Publications

31883641

Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_22_rating was removed from gene: UQCRFS1.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to UQCRFS1. Source Expert Review Green was added to UQCRFS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2022, Gel status: 2