Mitochondrial disorder with complex III deficiency
Gene: UQCC3Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 10:56 a.m.
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, 10:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex III deficiency, nuclear type 9, 616111
Publications
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. Gene Symbol submitted: UQCC3; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:33 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).
Publications for gene: UQCC3 were set to
Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
gene: UQCC3 was added gene: UQCC3 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS 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