| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - complex v0.277 | PAH | Bryony Thompson Marked gene: PAH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.277 | PAH | Bryony Thompson Gene: pah has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.277 | PAH | Bryony Thompson Classified gene: PAH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.277 | PAH | Bryony Thompson Gene: pah has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.234 | PAH |
Natalie Lim gene: PAH was added gene: PAH was added to Dystonia - complex. Sources: Expert Review Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAH were set to PMID: 25614310, PMID: 15390012, PMID: 30369906 Phenotypes for gene: PAH were set to Phenylketonuria MIM#261600 Review for gene: PAH was set to GREEN Added comment: Reports of parkinsonism and dystonia have been documented as delayed manifestations amongst PKU patients although rare. Sources: Expert Review |
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