Adult onset movement disorderGene: NPC2
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, 4:41 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.
Dystonia is a feature of the syndrome. PMID 11567215 suggests there is Juvenile onset of neurological symptoms in 50% of cases, and in infancy in 20% of cases, but do not clarify what constituted neurological symptoms. Severe phenotype presentig in childhood.
Created: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Niemann-pick disease, type C2, 607625
Added phenotypes Niemann-pick disease, type C2, 607625 for gene: NPC2 Publications for gene NPC2 were changed from to 11567215
Source NHS GMS was added to NPC2.
Source South West GLH was added to NPC2.
gene: NPC2 was added gene: NPC2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: NPC2 was set to Phenotypes for gene: NPC2 were set to Dystonia