Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Possible mitochondrial disorder - nuclear genes

Gene: UQCRC2

Amber List (moderate evidence)

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

5 reviews

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, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 5, 615160

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Two unrelated cases/families have been reported, though for the same missense variant.
Created: 29 Mar 2019, 2:16 p.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 2:15 p.m.

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.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 5, 615160

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

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

Details

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

History Filter Activity

29 Mar 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).

29 Mar 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: UQCRC2 were set to

29 Mar 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).

4 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 Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green 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