Adult onset dystonia, chorea or related movement disorder
Gene: PDE2A
PMID: 29392776 Only identified in one family with infantile onset chorea predominant movement disorder, not enough evidence to rate Green unless additional evidence from labs. it is currently not associated with any phenotypes in OMIM or G2PCreated: 13 Nov 2019, 3:19 p.m. | Last Modified: 13 Nov 2019, 3:20 p.m.
Panel Version: 0.130
Comment on list classification: downgraded to Amber until evidence from GLHCreated: 13 Nov 2019, 3:17 p.m. | Last Modified: 13 Nov 2019, 3:17 p.m.
Panel Version: 0.130
Review and rating submitted by James Polke, 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. | Last Modified: 29 Sep 2019, 2:31 p.m.
Panel Version: 0.125
Phenotypes for gene: PDE2A were changed from to Intellectual developmental disorder with paroxysmal dyskinesia or seizures, OMIM:619150
Mode of inheritance for gene: PDE2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: pde2a has been classified as Amber List (Moderate Evidence).
Gene: pde2a has been classified as Green List (High Evidence).
Source NHS GMS was added to PDE2A.
gene: PDE2A was added gene: PDE2A was added to Adult onset movement disorder. Sources: London North GLH Mode of inheritance for gene: PDE2A was set to