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  3. UQCC2
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Paediatric or syndromic cardiomyopathy

Gene: UQCC2

Amber List (moderate 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

Ellen McDonagh (Genomics England Curator)

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: 10 May 2019, 10:55 a.m.
Created: 10 May 2019, 10:55 a.m.

Panel version: Imported from Mitochondrial disorder with complex III deficiency panel version 0.18

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated cases 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 7, 615824

Publications

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

Panel version: Imported from Mitochondrial disorder with complex III deficiency panel version 0.16

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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: UQCC2; 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 7, 615824

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

Panel version: 0.16

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

Created: 1 Sep 2018, 5:11 a.m.

Panel version: Imported from Mitochondrial disorder with complex III deficiency panel version Imported from Mitochondrial disorders panel version 1.67

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

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

Panel version: Imported from Mitochondrial disorder with complex III deficiency panel version Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824
OMIM
614461
Clinvar variants
Variants in UQCC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Apr 2023, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: UQCC2 were changed from Mitochondrial complex III deficiency, nuclear type 7, 615824 to Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824

2 Dec 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to UQCC2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: UQCC2 was added gene: UQCC2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCC2 were set to 28804536; 24385928 Phenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7, 615824