Possible mitochondrial disorder - nuclear genes

Gene: UQCC1

I don't know

Report of an Arab founder variant in UQCC1 (NM_018244.5:c.656T>A;p.(Ile219Asn)) - identified in two families with lactic acidosis and borderline microcephaly. UQCC1 cooperates with UQCC2 for mitochondrial complex III assembly, and pathogenic variants of UQCC2 are an established cause of mitochondrial complex III deficiency in humans (PMID: 24385928).

GeneMatcher cohort of families with biallelic UQCC1 variants, together with functional evidence, is in preparation for publication.
Add as Amber gene with watchlist tag for now.

Created: 12 Aug 2026, 10:30 a.m. | Last Modified: 12 Aug 2026, 10:30 a.m.

Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
lactic acidosis

Publications

• 39504961

Comment on list classification: Demoting to Red as there is no evidence for Mendelian gene-disease association at this time

Created: 29 Jul 2022, 1:02 p.m. | Last Modified: 29 Jul 2022, 1:02 p.m.

Panel Version: 1.82

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: no reports of human disease; complex III assembly factor

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

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Publications

• none found

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 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.

Created: 29 Mar 2019, 2:20 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
Unknown

Phenotypes
No OMIM phenotype