Likely inborn error of metabolism - targeted testing not possible
Gene: UQCC3Comment on list classification: Promoting to Amber as some evidence is availableCreated: 18 Nov 2019, 11:20 a.m. | Last Modified: 18 Nov 2019, 11:21 a.m.
Panel Version: 1.400
No further variants have been reported in the literature to date (22/10/2019).Created: 22 Oct 2019, 9:55 a.m. | Last Modified: 22 Oct 2019, 9:55 a.m.
Panel Version: 1.374
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.Created: 3 May 2019, noon
single mutation report in literatureCreated: 5 Feb 2016, 12:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCC3 were set to
Mode of inheritance for gene: UQCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Sarah Leigh: Associated with phenotype in O
gene: UQCC3 was added gene: UQCC3 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: UQCC3 was set to Unknown Phenotypes for gene: UQCC3 were set to ?Mitochondrial complex III deficiency, nuclear type, 616111; Isolated complex III deficiency