Possible mitochondrial disorder - nuclear genes

Gene: UQCC2

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 7, 615824

Publications

• 28804536
• 24385928

Comment on list classification: his 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: 10 May 2019, 2:18 p.m.

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.147) - further evidence needs to be submitted to support promoting this gene family member to Green.

Created: 29 Mar 2019, 2:07 p.m.

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 7, 615824

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