Adult onset movement disorderGene: SCP2
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, 4:48 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 16685654 described a single patient with dystonia/tremor at age 17. Patient in PMID 26497993 was compuund heterozygous with NO extra pyramidal signs but mild dysmetria and dysdiadochokinesis. Onset in 30s.
Created: 23 Apr 2019, 12:14 p.m.
?Leukoencephalopathy with dystonia and motor neuropathy, 613724
Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SCP2 Publications for gene SCP2 were changed from PMID: 16685654 to 26497993; 16685654
Source NHS GMS was added to SCP2.
Source South West GLH was added to SCP2.
gene: SCP2 was added gene: SCP2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: SCP2 was set to Publications for gene: SCP2 were set to PMID: 16685654 Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy, 613724