Adult onset dystonia, chorea or related movement disorder
Gene: ACTB
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Associated with Dystonia-Deafness Syndrome. A single variant, c.547C>T has been reported, in >3 families. Can present in early adulthood.Created: 23 Apr 2019, 12:14 p.m.
Phenotypes
Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
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
Mode of inheritance for gene: ACTB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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
Gene: actb has been classified as Green List (High Evidence).
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
Source NHS GMS was added to ACTB.
Source South West GLH was added to ACTB.
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