Adult onset movement disorderGene: NUP62
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, 4:43 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.
Added phenotypes Striatonigral degeneration, infantile 271930 for gene: NUP62
Source NHS GMS was added to NUP62.
Source South West GLH was added to NUP62.
gene: NUP62 was added gene: NUP62 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP62 were set to 16786527; 14718703; 12374138 Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile