Genomics England
GMS Panels
Panels
Genes and Entities

PDE2A

phosphodiesterase 2A
OMIM: 602658
PanelMode of inheritanceDetails
1 panel
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
infantile‐onset chorea‐predominant movement disorder