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Inborn errors of metabolism

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

4 reviews

Catherine Snow (Genomics England)

Comment on list classification: Promoted from Red to Amber due to two unrelated cases/families - though this is for the same missense variant.
Created: 24 Oct 2019, 9:52 a.m. | Last Modified: 24 Oct 2019, 9:52 a.m.
Panel Version: 1.379

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber due to two unrelated cases/families - though this is for the same missense variant.
Created: 29 Mar 2019, 2:14 p.m.

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
Unknown
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 5, 615160
  • Isolated complex III deficiency
OMIM
191329
Clinvar variants
Variants in UQCRC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Oct 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

24 Oct 2019, Gel status: 1

Set publications

Catherine Snow (Genomics England)

Publications for gene: UQCRC2 were set to

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: UQCRC2 was added gene: UQCRC2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: UQCRC2 was set to Unknown Phenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160; Isolated complex III deficiency