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Dystonia, chorea or related movement disorder, adult onset 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
Dystonia, chorea or related movement disorder, adult onset v0.116 ACTB Louise Daugherty Mode of inheritance for gene: ACTB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, adult onset 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
Dystonia, chorea or related movement disorder, adult onset 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
Dystonia, chorea or related movement disorder, adult onset v0.68 ACTB Louise Daugherty Classified gene: ACTB as Green List (high evidence)
Dystonia, chorea or related movement disorder, adult onset v0.68 ACTB Louise Daugherty Gene: actb has been classified as Green List (High Evidence).
Dystonia, chorea or related movement disorder, adult onset v0.50 ACTB Louise Daugherty reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, adult onset 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:
Dystonia, chorea or related movement disorder, adult onset 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
Dystonia, chorea or related movement disorder, adult onset v0.47 ACTB Louise Daugherty Source NHS GMS was added to ACTB.
Dystonia, chorea or related movement disorder, adult onset v0.46 ACTB Louise Daugherty Source South West GLH was added to ACTB.
Dystonia, chorea or related movement disorder, adult onset 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