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  3. UQCC3
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Mitochondrial disorder with complex III deficiency

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

4 reviews

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Created: 10 May 2019, 10:56 a.m.
Created: 10 May 2019, 10:56 a.m.

Panel version: 0.19

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with functional studies
Created: 10 May 2019, 10:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial complex III deficiency, nuclear type 9, 616111

Publications

Created: 10 May 2019, 10:51 a.m.

Panel version: 0.16

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: UQCC3; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.
Created: 1 Feb 2019, 4:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial complex III deficiency, nuclear type 9, 616111

Created: 1 Feb 2019, 4:33 p.m.

Panel version: 0.3

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

Created: 5 Feb 2016, 12:50 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex III deficiency, nuclear type 9, 616111
OMIM
616097
Clinvar variants
Variants in UQCC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

10 May 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: UQCC3 were set to

25 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

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

1 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: UQCC3 was added gene: UQCC3 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: UQCC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCC3 were set to ?Mitochondrial complex III deficiency, nuclear type 9, 616111