Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Adult onset dystonia, chorea or related movement disorder v0.87 | PLP1 | Louise Daugherty Classified gene: PLP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.87 | PLP1 | Louise Daugherty Gene: plp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.50 | PLP1 | Louise Daugherty reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.49 | PLP1 | Emily Jones reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 30046645, 11093273 ; Phenotypes: Pelizaeus-Merzbacher disease, 312080, Spastic paraplegia 2, X-linked, 312920; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.48 | PLP1 |
Louise Daugherty Added phenotypes Pelizaeus-Merzbacher disease, 312080; Spastic paraplegia 2, X-linked, 312920 for gene: PLP1 Publications for gene PLP1 were changed from to 30046645; 11093273 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.47 | PLP1 | Louise Daugherty Source NHS GMS was added to PLP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.46 | PLP1 | Louise Daugherty Source South West GLH was added to PLP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.2 | PLP1 |
Ellen McDonagh gene: PLP1 was added gene: PLP1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: PLP1 was set to Phenotypes for gene: PLP1 were set to Dystonia |