| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - isolated/combined v0.33 | ATP1A3 | Zornitza Stark Marked gene: ATP1A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.33 | ATP1A3 | Zornitza Stark Gene: atp1a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.33 | ATP1A3 | Zornitza Stark Phenotypes for gene: ATP1A3 were changed from DYSTONIA 12, 128235; Rapid-Onset Dystonia-Parkinsonism; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; Dystonia-12, 128235 to Dystonia-12, MIM# 128235; Rapid dystonia-parkinsonism MONDO:0007496 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.32 | ATP1A3 | Zornitza Stark Publications for gene: ATP1A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.31 | ATP1A3 | Zornitza Stark reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15260953, 17282997, 19351654; Phenotypes: Dystonia-12, MIM# 128235, Rapid dystonia-parkinsonism MONDO:0007496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.0 | ATP1A3 |
Bryony Thompson gene: ATP1A3 was added gene: ATP1A3 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATP1A3 were set to DYSTONIA 12, 128235; Rapid-Onset Dystonia-Parkinsonism; ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; Dystonia-12, 128235 |
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