Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Early-onset Parkinson disease v0.85 | RIC3 | Bryony Thompson Marked gene: RIC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early-onset Parkinson disease v0.85 | RIC3 | Bryony Thompson Gene: ric3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early-onset Parkinson disease v0.85 | RIC3 |
Bryony Thompson gene: RIC3 was added gene: RIC3 was added to Early-onset Parkinson disease. Sources: Other Mode of inheritance for gene: RIC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RIC3 were set to 27055476; 28153381; 28606768; 32794657 Phenotypes for gene: RIC3 were set to Parkinson disease Review for gene: RIC3 was set to RED Added comment: Segregation reported in a single Indian family (PMID: 27055476), with limited in vitro functional assays. The variant is present in the South Asian population in gnomAD v2.1 14/30,596 alleles. The association has not been replicated in any additional studies. Sources: Other |