Adult onset movement disorderGene: TREM2
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, 4:51 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.
No indication thata movement disorder would be a presenting feature of the associated disorders
Created: 23 Apr 2019, 12:14 p.m.
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193; Alzheimers disease; Frontotemporal dementia
Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193; Alzheimers disease; Frontotemporal dementia for gene: TREM2 Publications for gene TREM2 were changed from to 26891767
Source NHS GMS was added to TREM2.
Source South West GLH was added to TREM2.
gene: TREM2 was added gene: TREM2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: TREM2 was set to Phenotypes for gene: TREM2 were set to Dystonia