PDE10A

phosphodiesterase 10A
OMIM: 610652, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green PDE10A in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.22

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


Version 1.17
Latest signed off version: v1.2 (27 Feb 2020)

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


Version 1.749
Latest signed off version: v1.92 (21 Aug 2020)

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

Amber PDE10A in DDG2P


Version 2.50
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • Childhood-Onset Chorea with Bilateral Striatal Lesions

    Amber PDE10A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Dyskinesia, limb and orofacial, infantile-onset, MIM#616921

    Green PDE10A in Adult onset movement disorder


    Version 1.125
    Latest signed off version: v1.121 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Striatal degeneration, autosomal dominant, OMIM:616922
    • Dyskinesia, limb and orofacial, infantile-onset, OMIM:616921
    Tags
    • Q2_21_MOI
    • Q2_21_rating

    Green PDE10A in Childhood onset dystonia or chorea or related movement disorder


    Version 1.166
    Latest signed off version: v1.137 (5 Aug 2021)

    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

    Green PDE10A in Severe Paediatric Disorders


    Version 1.84

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dyskinesia, limb and orofacial, infantile-onset, 616921
    • Striatal degeneration, autosomal dominant, 616922