Adult onset movement disorderGene: VPS37A
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, 4:50 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 22717650 describes two families. 2/9 family members had dystonia but was not predominant feature
Created: 23 Apr 2019, 12:14 p.m.
Spastic paraplegia 53, autosomal recessive, 614898
Added phenotypes Spastic paraplegia 53, autosomal recessive, 614898 for gene: VPS37A Publications for gene VPS37A were changed from to 22717650
Source NHS GMS was added to VPS37A.
Source South West GLH was added to VPS37A.
gene: VPS37A was added gene: VPS37A was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: VPS37A was set to Phenotypes for gene: VPS37A were set to Dystonia