| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Adult onset dystonia, chorea or related movement disorder v1.30 | ATP13A2 | Sarah Leigh Phenotypes for gene: ATP13A2 were changed from Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb Syndrome to Kufor-Rakeb Syndrome OMIM:606693; Kufor-Rakeb syndrome MONDO:0011706 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.54 | ATP13A2 | Louise Daugherty reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.53 | ATP13A2 | James Polke reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.52 | ATP13A2 | Louise Daugherty Source NHS GMS was added to ATP13A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.51 | ATP13A2 | Louise Daugherty Source London North GLH was added to ATP13A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | ATP13A2 |
Ellen McDonagh gene: ATP13A2 was added gene: ATP13A2 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP13A2 were set to 21060012 Phenotypes for gene: ATP13A2 were set to Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb Syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||