Possible mitochondrial disorder - nuclear genes
Gene: UQCC3
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex III deficiency, nuclear type 9, 616111
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 1.147) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 2:10 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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex III deficiency, nuclear type 9, 616111
single mutation report in literatureCreated: 5 Feb 2016, 12:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Gene: uqcc3 has been classified as Green List (High Evidence).
gene: UQCC3 was added gene: UQCC3 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: UQCC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCC3 were set to ?Mitochondrial complex III deficiency, nuclear type 9, 616111