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Mitochondrial disorder with complex III deficiency

Gene: UQCRC2

Green List (high evidence)
UQCRC2 (ubiquinol-cytochrome c reductase core protein 2)
EnsemblGeneIds (GRCh38): ENSG00000140740
EnsemblGeneIds (GRCh37): ENSG00000140740
OMIM: 191329, Gene2Phenotype
UQCRC2 is in 4 panels

7 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 11:46 a.m. | Last Modified: 1 Feb 2023, 11:46 a.m.
Panel Version: 1.19
Created: 1 Feb 2023, 11:46 a.m.
Last Modified: 1 Feb 2023, 11:46 a.m.
Panel version: 1.19

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green. Third case now identified with a novel homozygous variant plus functional data.
Created: 30 Aug 2022, 9:31 a.m. | Last Modified: 30 Aug 2022, 9:31 a.m.
Panel Version: 1.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 5, OMIM: 615160

Publications

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

Created: 30 Aug 2022, 9:31 a.m.
Last Modified: 30 Aug 2022, 9:31 a.m.
Panel version: 1.8

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, 11:05 a.m.
Created: 10 May 2019, 11:05 a.m.

Panel version: 0.23

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: 2 unrelated families but same single mutation; functional studies
Created: 10 May 2019, 10:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 5, 615160

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: UQCRC2; 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 5, 615160

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

Panel version: 0.3

Zornitza Stark (Australian Genomics)

I don't know

Please note second additional report, probably merits Amber.
Created: 1 Sep 2018, 5:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 5, MIM#615160

Publications

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

Created: 1 Sep 2018, 5:23 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.67

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single mutation report in literature
Created: 6 Feb 2016, 10:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 6 Feb 2016, 10:44 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 5, OMIM:615160
OMIM
191329
Clinvar variants
Variants in UQCRC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_22_rating was removed from gene: UQCRC2. Tag Q3_22_NHS_review was removed from gene: UQCRC2.

1 Feb 2023, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to UQCRC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 Aug 2022, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: UQCRC2 were set to 28275242; 23281071

31 Aug 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: UQCRC2 were changed from Mitochondrial complex III deficiency, nuclear type 5, 615160 to Mitochondrial complex III deficiency, nuclear type 5, OMIM:615160

26 Aug 2022, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: UQCRC2. Tag Q3_22_NHS_review tag was added to gene: UQCRC2.

10 May 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).

10 May 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: UQCRC2 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: uqcrc2 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: UQCRC2 was added gene: UQCRC2 was added to Mitochondrial disorder with complex III deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: UQCRC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160