Adult onset movement disorderGene: PSEN1
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:45 p.m.
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.
PMID 28664294 reports one patient with early onset dystonia-parkinsonism. PMID 29316780 descibes a patient (and ?other family members) with neuropsychiatric and neurological symtoms, including dystonia in the proband
Created: 23 Apr 2019, 12:14 p.m.
Alzheimer disease, type 3, 607822; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal 600274; Pick disease, 172700
Added phenotypes Pick disease, 172700; Dementia, frontotemporal 600274; Alzheimer disease, type 3, 607822; Cardiomyopathy, dilated, 1U, 613694 for gene: PSEN1 Publications for gene PSEN1 were changed from to 29316780; 28664294
Source NHS GMS was added to PSEN1.
Source South West GLH was added to PSEN1.
gene: PSEN1 was added gene: PSEN1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: PSEN1 was set to Phenotypes for gene: PSEN1 were set to Dystonia