1. Genes and Genomic Entities
  2. PDE10A

PDE10A

phosphodiesterase 10A
OMIM: 610652, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green PDE10A in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.40

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Dyskinesia, limb and orofacial, infantile-onset 616921
  • Striatal degeneration, autosomal dominant 616922
Green PDE10A 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 Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Dyskinesia, limb and orofacial, infantile-onset, 616921
  • Infantile-onset limb and orofacial dyskinesia
Amber PDE10A in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.158
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Childhood-Onset Chorea with Bilateral Striatal Lesions
Green PDE10A in DDG2P


Version 6.427
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Childhood-Onset Chorea with Bilateral Striatal Lesions
    Amber PDE10A in Intellectual disability


    Level 2: Developmental disorders
    Version 9.325
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Dyskinesia, limb and orofacial, infantile-onset, MIM#616921
    Red PDE10A in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Striatal degeneration, autosomal dominant, OMIM:616922
    • Dyskinesia, limb and orofacial, infantile-onset, OMIM:616921
    Green PDE10A in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.17
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Striatal degeneration, autosomal dominant 616922
    • Dyskinesia, limb and orofacial, infantile-onset 616921