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| Early-onset Parkinson disease v2.14 | RFC1_CANVAS_ANNGN | Bryony Thompson Marked STR: RFC1_CANVAS_ANNGN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.14 | RFC1_CANVAS_ANNGN | Bryony Thompson Str: rfc1_canvas_anngn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.14 | RFC1_CANVAS_ANNGN | Bryony Thompson Classified STR: RFC1_CANVAS_ANNGN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.14 | RFC1_CANVAS_ANNGN | Bryony Thompson Str: rfc1_canvas_anngn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.13 | RFC1_CANVAS_ANNGN |
Bryony Thompson STR: RFC1_CANVAS_ANNGN was added STR: RFC1_CANVAS_ANNGN was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for STR: RFC1_CANVAS_ANNGN was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: RFC1_CANVAS_ANNGN were set to 39833204; 39152783; 38789445; 36705320; 35013364 Phenotypes for STR: RFC1_CANVAS_ANNGN were set to Parkinson disease MONDO:0005180 Review for STR: RFC1_CANVAS_ANNGN was set to GREEN STR: RFC1_CANVAS_ANNGN was marked as clinically relevant STR: RFC1_CANVAS_ANNGN was marked as current diagnostic Added comment: Biallelic RFC1 expansions have been identified as a rare cause of Parkinson's disease, without ataxia or neuropathy. Sources: Literature |
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