Possible mitochondrial disorder - nuclear genes
Gene: UQCR11EnsemblGeneIds (GRCh38): ENSG00000127540
EnsemblGeneIds (GRCh37): ENSG00000127540
OMIM: 609711, Gene2Phenotype
UQCR11 is in 3 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Demoting to Red as there is no evidence for Mendelian gene-disease association at this timeCreated: 29 Jul 2022, 1:01 p.m. | Last Modified: 29 Jul 2022, 1:01 p.m.
Panel Version: 1.81
Carl Fratter (Oxford University Hospitals NHS Trust)
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
- 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 not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 2:10 p.m.
Ivone Leong (Genomics England Curator)
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
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- No OMIM phenotype
- OMIM
- 609711
- Clinvar variants
- Variants in UQCR11
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: uqcr11 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: uqcr11 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: UQCR11 was added gene: UQCR11 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: UQCR11 was set to Unknown Phenotypes for gene: UQCR11 were set to No OMIM phenotype