| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - isolated/combined v1.32 | ATP5B | Zornitza Stark Marked gene: ATP5B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.32 | ATP5B | Zornitza Stark Gene: atp5b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.32 | ATP5B | Zornitza Stark Phenotypes for gene: ATP5B were changed from DYSTONIA; PROGRESSIVE DYSTONIA to Inherited dystonia, MONDO:0044807, ATP5B-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.31 | ATP5B | Zornitza Stark Classified gene: ATP5B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.31 | ATP5B | Zornitza Stark Gene: atp5b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.30 | ATP5B | Zornitza Stark reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Inherited dystonia, MONDO:0044807, ATP5B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.30 | ATP5B |
Shekeeb Mohammad gene: ATP5B was added gene: ATP5B was added to Dystonia - isolated/combined. Sources: Literature Mode of inheritance for gene: ATP5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP5B were set to 36860166 Phenotypes for gene: ATP5B were set to DYSTONIA; PROGRESSIVE DYSTONIA Penetrance for gene: ATP5B were set to Incomplete Review for gene: ATP5B was set to GREEN Added comment: Sources: Literature |
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