Mitochondrial disorders
Gene: UQCC3Comment 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
Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: UQCC3.
Mode of inheritance for gene: UQCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCC3 were set to
Victorian Clinical Genetics Services was added to UQCC3. Panel: Mitochondrial disorders
UQCC3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
UQCC3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen