Possible mitochondrial disorder - nuclear genes
Gene: UQCC1Comment on list classification: Demoting to Red as there is no evidence for Mendelian gene-disease association at this timeCreated: 29 Jul 2022, 1:02 p.m. | Last Modified: 29 Jul 2022, 1:02 p.m.
Panel Version: 1.82
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 assembly factorCreated: 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 not currently 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, 2:20 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
Gene: uqcc1 has been classified as Red List (Low Evidence).
Gene: uqcc1 has been classified as Amber List (Moderate Evidence).
gene: UQCC1 was added gene: UQCC1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: UQCC1 was set to Unknown Phenotypes for gene: UQCC1 were set to No OMIM phenotype