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  3. UQCRC1
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Mitochondrial disorders

Gene: UQCRC1

Amber List (moderate evidence)
UQCRC1 (ubiquinol-cytochrome c reductase core protein 1)
EnsemblGeneIds (GRCh38): ENSG00000010256
EnsemblGeneIds (GRCh37): ENSG00000010256
OMIM: 191328, Gene2Phenotype
UQCRC1 is in 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Rating Amber based on current evidence - three unrelated individuals with Parkinson's disease and heterozygous variants identified by one group (PMID: 33141179) but results have failed to be replicated in large European and Chinese cohorts (PMIDs: 33779694; 33248804)
Created: 31 Aug 2022, 9:56 a.m. | Last Modified: 31 Aug 2022, 9:56 a.m.
Panel Version: 2.174
Created: 31 Aug 2022, 9:56 a.m.
Last Modified: 31 Aug 2022, 9:56 a.m.
Panel version: 2.174

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature; good candidate gene for complex III deficiency (encodes a subunit of the enzyme)
Created: 6 Feb 2016, 10:41 p.m.
Created: 6 Feb 2016, 10:41 p.m.

Panel version: 0.16

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinsonism with polyneuropathy, OMIM:619279
OMIM
191328
Clinvar variants
Variants in UQCRC1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).

31 Aug 2022, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: UQCRC1 were set to

31 Aug 2022, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: UQCRC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 Aug 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: UQCRC1 were changed from No OMIM phenotype to Parkinsonism with polyneuropathy, OMIM:619279

30 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

UQCRC1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen