| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Parkinson disease v3.6 | EPG5 | Bryony Thompson Marked gene: EPG5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.6 | EPG5 | Bryony Thompson Gene: epg5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.6 | EPG5 | Bryony Thompson Classified gene: EPG5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.6 | EPG5 | Bryony Thompson Gene: epg5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.5 | EPG5 |
Bryony Thompson gene: EPG5 was added gene: EPG5 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 41159719; 41053928; 40192014 Phenotypes for gene: EPG5 were set to neurodevelopmental disorder with parkinsonism or other movement abnormalities MONDO:0980990 Review for gene: EPG5 was set to GREEN Added comment: PMID 40192014, PMID 41053928 and PMID 41159719 report >15 families with biallelic EPG5 variants presenting with early‑onset Parkinson disease (onset ≤50 years), often accompanied by dystonia and cognitive decline. The variants are loss‑of‑function (nonsense, frameshift, splice) or hypomorphic missense; patient‑derived cell assays and animal models demonstrate impaired autophagy and loss of substantia nigra dopaminergic neurons. Sources: Literature |
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