Mitochondrial disorders

Gene: UQCRB

Green List (high evidence)

For completeness, additional families reported.

Created: 13 Apr 2020, 8:15 a.m. | Last Modified: 13 Apr 2020, 8:15 a.m.

Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 3, 615158

Publications

• 23281071
• 28275242

Variants in this GENE are reported as part of current diagnostic practice

Comment on publications: PMID: 12709789 (case report);PMID: 25446085 (functional study);PMID: 23454382 (functional study)

Created: 23 May 2019, 3:49 p.m.

Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex III deficiency (Version 0.25).

Created: 23 May 2019, 3:48 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