Possible mitochondrial disorder - nuclear genes
Gene: UQCRFS1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 1:12 p.m. | Last Modified: 1 Feb 2023, 1:12 p.m.
Panel Version: 2.5
Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green. Two unrelated families reported plus supporting functional evidence (PMID: 31883641)Created: 30 Aug 2022, 9:28 a.m. | Last Modified: 30 Aug 2022, 9:28 a.m.
Panel Version: 1.103
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex III deficiency, nuclear type 10, OMIM: 618775
Publications
Variants in this GENE are reported as part of current diagnostic practice
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 subunitCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Publications
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.
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
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. Tag Q3_22_NHS_review was removed from gene: UQCRFS1.
Source Expert Review Green was added to UQCRFS1. Rating Changed from Amber List (moderate evidence) to Green List (high 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. Tag Q3_22_NHS_review tag was added to gene: UQCRFS1.
Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).
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