Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. UQCC3 is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID: 25008109 reported on a patient born of consanguineous parents with homozygous variant in this gene. PMID: 28804536 reported on a Turkish patient born of consanguineous parents with two different homozygous variants in this this gene. As there are only 2 cases, currently there is not enough evidence to promote this gene to green. A watchlist tag has also been added.