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  3. UQCRC1
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Adult onset neurodegenerative disorder

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, 9:55 a.m. | Last Modified: 31 Aug 2022, 9:55 a.m.
Panel Version: 2.282
Created: 31 Aug 2022, 9:55 a.m.
Last Modified: 31 Aug 2022, 9:55 a.m.
Panel version: 2.282

Zornitza Stark (Australian Genomics)

I don't know

Three unrelated families reported in PMID 33141179 with some functional data, however PMID 33248804 failed to identify significant variants in this gene in a large PD cohort.
Sources: Literature
Created: 7 Jan 2021, 10:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
33141179; 33248804

Publications

Created: 7 Jan 2021, 10:02 a.m.

Panel version: 2.37

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Parkinsonism with polyneuropathy, OMIM:619279
Tags
watchlist
OMIM
191328
Clinvar variants
Variants in UQCRC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Aug 2022, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: UQCRC1.

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: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: UQCRC1 were set to 33141179; 33248804

31 Aug 2022, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: UQCRC1 were changed from 33141179; 33248804 to Parkinsonism with polyneuropathy, OMIM:619279

7 Jan 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: UQCRC1 was added gene: UQCRC1 was added to Neurodegenerative disorders - adult onset. Sources: Literature Mode of inheritance for gene: UQCRC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UQCRC1 were set to 33141179; 33248804 Phenotypes for gene: UQCRC1 were set to 33141179; 33248804 Review for gene: UQCRC1 was set to AMBER