Adult onset dystonia, chorea or related movement disorder
Gene: MAPT
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
Phenotypes for gene: MAPT were changed from Supranuclear palsy, progressive, 601104; clinical presentation suggestive of cortico-basal/PSP syndrome; Supranuclear palsy, progressive atypical, 260540; {Parkinson disease, susceptibility to}, 168600; Pick disease, 172700; Tauopathy and r; Dementia, frontotemporal, with or without parkinsonism, 600274; PARKINSON-DEMENTIA SYNDROME to Supranuclear palsy, progressive, OMIM:601104; Supranuclear palsy, progressive atypical, OMIM:260540; {Parkinson disease, susceptibility to}, OMIM:168600; Dementia, frontotemporal, with or without parkinsonism, OMIM:600274; Pick disease, OMIM:172700
Source NHS GMS was added to MAPT.
Source London North GLH was added to MAPT.
gene: MAPT was added gene: MAPT was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAPT were set to 28334843; 20301678 Phenotypes for gene: MAPT were set to Supranuclear palsy, progressive, 601104; clinical presentation suggestive of cortico-basal/PSP syndrome; Supranuclear palsy, progressive atypical, 260540; {Parkinson disease, susceptibility to}, 168600; Pick disease, 172700; Tauopathy and r; Dementia, frontotemporal, with or without parkinsonism, 600274; PARKINSON-DEMENTIA SYNDROME