Possible mitochondrial disorder - nuclear genes

Gene: UQCRB

Green List (high evidence)

Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies

Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 3, 615158

Publications

• 12709789
• 25446085
• 28604960

Green List (high evidence)

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 3, 615158

Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported (both with deletions) and supporting functional evidence.

Created: 10 May 2019, 2:19 p.m.

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, 2:12 p.m.

Comment on list classification: Reviewer states this should be promoted to green, however there is only a single report in the literature. It is a probable DD gene for mitochondrial respiratory chain complex III deficiency.

Created: 10 Feb 2016, 10:08 a.m.

Comment on mode of inheritance: Confirmed in OMIM and G2P.

Created: 10 Feb 2016, 9:57 a.m.

Green List (high evidence)

single report in the literature

Created: 3 Feb 2016, 5:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal