Adult onset neurodegenerative disorder
Gene: ACTB
Congenital onsetCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
Unknown
Phenotypes
Dystonia, juvenile-onset, 607371; Baraitser-Winter syndrome 1, 243310
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 3:05 p.m.
Only evidence is 1 family: Affected MZ twins with ACTB variant, not found in mother or 2 half-sibs (16685646).Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
Unknown
Phenotypes
Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
Source Yorkshire and North East GLH was added to ACTB.
Source NHS GMS was added to ACTB.
Source South West GLH was added to ACTB.
Rebecca Foulger: Gene awaiting curator evaluati
gene: ACTB was added gene: ACTB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ACTB was set to Unknown Phenotypes for gene: ACTB were set to Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310