| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Dystonia - complex v0.105 | ACTB | Zornitza Stark Marked gene: ACTB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.105 | ACTB | Zornitza Stark Gene: actb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.105 | ACTB | Zornitza Stark Mode of pathogenicity for gene: ACTB was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.58 | ACTB | Bryony Thompson reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25255767, 31970217, 28487785, 28849312, 29788902; Phenotypes: Dystonia, juvenile-onset MIM#607371; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.0 | ACTB |
Bryony Thompson gene: ACTB was added gene: ACTB was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTB were set to 29788902; 28487785 Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1, 243310; Dystonia, juvenile-onset, 607371 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||