Adult onset dystonia, chorea or related movement disorder
Gene: PPP2R2BComment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 10 Nov 2021, 5:51 p.m. | Last Modified: 10 Nov 2021, 5:51 p.m.
Panel Version: 1.156
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 REDCreated: 19 Jun 2019, 4:44 p.m.
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
Mode of pathogenicity for gene: PPP2R2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for gene: PPP2R2B was changed from to Other
Phenotypes for gene: PPP2R2B were changed from to Spinocerebellar ataxia 12, OMIM:604326
Tag nucleotide-repeat-expansion tag was added to gene: PPP2R2B. Tag currently-ngs-unreportable tag was added to gene: PPP2R2B.
Source NHS GMS was added to PPP2R2B.
gene: PPP2R2B was added gene: PPP2R2B was added to Adult onset movement disorder. Sources: London North GLH Mode of inheritance for gene: PPP2R2B was set to