Adult onset neurodegenerative disorder
Gene: UQCRC1Comment 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
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: LiteratureCreated: 7 Jan 2021, 10:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
33141179; 33248804
Publications
Tag watchlist tag was added to gene: UQCRC1.
Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Publications for gene: UQCRC1 were set to 33141179; 33248804
Phenotypes for gene: UQCRC1 were changed from 33141179; 33248804 to Parkinsonism with polyneuropathy, OMIM:619279
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