Likely inborn error of metabolism

Gene: UQCC2

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, with functional supporting evidence.

Created: 14 Nov 2019, 4:17 p.m. | Last Modified: 14 Nov 2019, 4:17 p.m.

Panel Version: 1.397

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, 3:45 p.m.

Comment on list classification: Promoted from Red to Amber due to two reports.

Created: 29 Mar 2019, 2:08 p.m.

I don't know

Two unrelated individuals reported in the literature so far, probably merits Amber.

Created: 1 Sep 2018, 5:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 7, MIM#615824

Publications

• 28804536
• 24385928

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

Green List (high evidence)

aka C11orf83;

single mutation report in literature

Created: 5 Feb 2016, 12:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal