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Possible mitochondrial disorder - nuclear genes

Gene: UQCRFS1

Amber List (moderate evidence)

UQCRFS1 (ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1)
EnsemblGeneIds (GRCh38): ENSG00000169021
EnsemblGeneIds (GRCh37): ENSG00000169021
OMIM: 191327, Gene2Phenotype
UQCRFS1 is in 4 panels

4 reviews

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: no reports of human disease; complex III subunit
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Publications

  • none found

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 2:21 p.m.

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
Unknown

Phenotypes
No OMIM phenotype

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.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
OMIM
191327
Clinvar variants
Variants in UQCRFS1
Penetrance
None
Panels with this gene

History Filter Activity

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: uqcrfs1 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: UQCRFS1 was added gene: UQCRFS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: UQCRFS1 was set to Unknown Phenotypes for gene: UQCRFS1 were set to No OMIM phenotype