PDE2A

phosphodiesterase 2A
OMIM: 602658, Gene2Phenotype

3 panels

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


Level 2: Neurology
Version 4.2
Latest signed off version: v4.0 (30 Apr 2025)

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


Level 2: Neurology
Version 5.3
Latest signed off version: v5.0 (30 Apr 2025)

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


Level 2: Neurology
Version 7.13
Latest signed off version: v7.0 (30 Apr 2025)

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