Likely inborn error of metabolism - targeted testing not possible
Gene: UQCRFS1
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
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
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.
Tag Q3_22_rating was removed from gene: UQCRFS1.
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)
Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: UQCRFS1 were changed from No OMIM phenotype to Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775
Publications for gene: UQCRFS1 were set to
Mode of inheritance for gene: UQCRFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tag Q3_22_rating tag was added to gene: UQCRFS1.
Sarah Leigh: Associated with phenotype in O
gene: UQCRFS1 was added gene: UQCRFS1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: UQCRFS1 was set to Unknown Phenotypes for gene: UQCRFS1 were set to No OMIM phenotype