Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Adult onset dystonia, chorea or related movement disorder v1.17 | TOR1A | Arina Puzriakova Phenotypes for gene: TOR1A were changed from Dystonia-1, torsion, 128100; Early-Onset Primary Dystonia; Autosomal dominant or sporadic dystonia (DYT1) to Dystonia-1, torsion, OMIM:128100; Dystonic disorder, MONDO:0003441 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.54 | TOR1A | Louise Daugherty reviewed gene: TOR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.53 | TOR1A | James Polke reviewed gene: TOR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.52 | TOR1A | Louise Daugherty Source NHS GMS was added to TOR1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.51 | TOR1A | Louise Daugherty Source London North GLH was added to TOR1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.2 | TOR1A |
Ellen McDonagh gene: TOR1A was added gene: TOR1A was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TOR1A were set to 16537570; 9288096; 20301665; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 17503336; 11523564 Phenotypes for gene: TOR1A were set to Dystonia-1, torsion, 128100; Early-Onset Primary Dystonia; Autosomal dominant or sporadic dystonia (DYT1) |