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| Parkinson Disease and Complex Parkinsonism v1.121 | VPS13C | David Collier reviewed gene: VPS13C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34875562 PMID: 33579389 PMID: 33039764 PMID: 30452786 PMID: 28862745 PMID: 28137300 PMID: 26942284; Phenotypes: Dementia with Lewy bodies, Early-onset autosomal recessive Parkinson's disease, Early onset Parkinsonism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson Disease and Complex Parkinsonism v1.68 | VPS13C |
Zornitza Stark gene: VPS13C was added gene: VPS13C was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list Mode of inheritance for gene: VPS13C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13C were set to 26942284; 30452786; 28862745 Phenotypes for gene: VPS13C were set to Parkinson disease 23, autosomal recessive, early onset MIM#616840 Review for gene: VPS13C was set to GREEN gene: VPS13C was marked as current diagnostic Added comment: >3 individuals with biallelic variants. Sources: Expert list |
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