Mitochondrial disorder with complex III deficiency
Gene: UQCRHComment 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, 11:07 a.m.
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case reported (poster at UK Neuromuscular conference 2019) with functional studiesCreated: 10 May 2019, 10:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
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: UQCRH; Suggested intial gene rating: Green.Created: 1 Feb 2019, 4:33 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, 10:48 p.m.
Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: UQCRH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: uqcrh has been classified as Amber List (Moderate Evidence).
gene: UQCRH was added gene: UQCRH was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: UQCRH was set to Unknown Phenotypes for gene: UQCRH were set to No OMIM phenotype