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| Adult onset neurodegenerative disorder v2.282 | UQCRC1 | Arina Puzriakova Tag watchlist tag was added to gene: UQCRC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.282 | UQCRC1 | Arina Puzriakova Classified gene: UQCRC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.282 | UQCRC1 | Arina Puzriakova Added comment: 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.282 | UQCRC1 | Arina Puzriakova Gene: uqcrc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.281 | UQCRC1 | Arina Puzriakova Publications for gene: UQCRC1 were set to 33141179; 33248804 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.280 | UQCRC1 | Arina Puzriakova Phenotypes for gene: UQCRC1 were changed from 33141179; 33248804 to Parkinsonism with polyneuropathy, OMIM:619279 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.37 | UQCRC1 |
Zornitza Stark 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 Added comment: 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 |
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