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Inborn errors of metabolism

Gene: UQCC3

Amber List (moderate evidence)

UQCC3 (ubiquinol-cytochrome c reductase complex assembly factor 3)
EnsemblGeneIds (GRCh38): ENSG00000204922
EnsemblGeneIds (GRCh37): ENSG00000204922
OMIM: 616097, Gene2Phenotype
UQCC3 is in 4 panels

3 reviews

Catherine Snow (Genomics England)

Comment on list classification: Promoting to Amber as some evidence is available
Created: 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

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)

Green List (high evidence)

single mutation report in literature
Created: 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
Phenotypes
  • ?Mitochondrial complex III deficiency, nuclear type, 616111
  • Isolated complex III deficiency
OMIM
616097
Clinvar variants
Variants in UQCC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Nov 2019, Gel status: 2

Set publications

Catherine Snow (Genomics England)

Publications for gene: UQCC3 were set to

18 Nov 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: UQCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

18 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: uqcc3 has been classified as Amber List (Moderate Evidence).

18 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: uqcc3 has been classified as Amber List (Moderate Evidence).

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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