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Inborn errors of metabolism

Gene: UQCC2

Green List (high evidence)

UQCC2 (ubiquinol-cytochrome c reductase complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000137288
EnsemblGeneIds (GRCh37): ENSG00000137288
OMIM: 614461, Gene2Phenotype
UQCC2 is in 7 panels

5 reviews

Catherine Snow (Genomics England)

Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Two unrelated cases reported, with functional supporting evidence.
Created: 14 Nov 2019, 4:17 p.m. | Last Modified: 14 Nov 2019, 4:17 p.m.
Panel Version: 1.397

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex III deficiency (Version 0.25).
Created: 23 May 2019, 3:45 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber due to two reports.
Created: 29 Mar 2019, 2:08 p.m.

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated individuals reported in the literature so far, probably merits Amber.
Created: 1 Sep 2018, 5:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 7, MIM#615824

Publications

Variants in this GENE are reported as part of current diagnostic practice

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

aka C11orf83;

single mutation report in literature

Created: 5 Feb 2016, 12:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex III deficiency
OMIM
614461
Clinvar variants
Variants in UQCC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Nov 2019, Gel status: 3

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: UQCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

14 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: uqcc2 has been classified as Green List (High Evidence).

14 Nov 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: UQCC2 were set to

14 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: uqcc2 has been classified as Green List (High 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: UQCC2 was added gene: UQCC2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: UQCC2 was set to Unknown Phenotypes for gene: UQCC2 were set to Isolated complex III deficiency