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| Adult onset dystonia, chorea or related movement disorder v1.21 | ACTB | Sarah Leigh Phenotypes for gene: ACTB were changed from Dystonia, juvenile-onset, 607371; Baraitser-Winter syndrome 1, 243310 to Dystonia, juvenile-onset, OMIM:607371; developmental malformations-deafness-dystonia syndrome MONDO:0011823; Baraitser-Winter syndrome 1 OMIM:243310:Baraitser-Winter syndrome 1 MONDO:0009470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.116 | ACTB | Louise Daugherty Mode of inheritance for gene: ACTB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.115 | ACTB | Louise Daugherty Phenotypes for gene: ACTB were changed from Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 to Dystonia, juvenile-onset, 607371; Baraitser-Winter syndrome 1, 243310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.69 | ACTB | Louise Daugherty Mode of pathogenicity for gene: ACTB was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.68 | ACTB | Louise Daugherty Classified gene: ACTB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.68 | ACTB | Louise Daugherty Gene: actb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.50 | ACTB | Louise Daugherty reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | ACTB | Emily Jones reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 16685646, 28487785, 27862284, 28849312, 29788902; Phenotypes: Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.48 | ACTB |
Louise Daugherty Added phenotypes Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 for gene: ACTB Publications for gene ACTB were changed from to 28849312; 16685646; 27862284; 28487785; 29788902 |
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| Adult onset dystonia, chorea or related movement disorder v0.47 | ACTB | Louise Daugherty Source NHS GMS was added to ACTB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.46 | ACTB | Louise Daugherty Source South West GLH was added to ACTB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | ACTB |
Ellen McDonagh gene: ACTB was added gene: ACTB was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: ACTB was set to Phenotypes for gene: ACTB were set to Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 |
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