Mitochondrial disorders
Gene: UQCC3EnsemblGeneIds (GRCh38): ENSG00000204922
EnsemblGeneIds (GRCh37): ENSG00000204922
OMIM: 616097, Gene2Phenotype
UQCC3 is in 4 panels
2 reviews
Ivone Leong (Genomics England Curator)
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
Shamima Rahman (UCL Institute of Child Health)
single mutation report in literatureCreated: 5 Feb 2016, 12:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Isolated complex III deficiency
- ?Mitochondrial complex III deficiency, nuclear type, 616111
- Tags
- OMIM
- 616097
- Clinvar variants
- Variants in UQCC3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag watchlist tag was added to gene: UQCC3.
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: UQCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: UQCC3 were set to
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to UQCC3. Panel: Mitochondrial disorders
Added New Source
Ellen McDonagh (Genomics England Curator)UQCC3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)UQCC3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen