PDE2A

phosphodiesterase 2A
OMIM: 602658, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber PDE2A in Paroxysmal central nervous system disorders


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • London North GLH
Phenotypes
  • infantile‐onset chorea‐predominant movement disorder
Amber PDE2A in Adult onset dystonia, chorea or related movement disorder


Version 3.18
Latest signed off version: v3.12 (31 Jul 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • London North GLH
Phenotypes
  • Intellectual developmental disorder with paroxysmal dyskinesia or seizures, OMIM:619150
Green PDE2A in Childhood onset dystonia, chorea or related movement disorder


Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
Phenotypes
  • infantile‐onset chorea‐predominant movement disorder