PDE10A

phosphodiesterase 10A
OMIM: 610652, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red PDE10A in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Dyskinesia, limb and orofacial, infantile-onset, autosomal recessive, MIM#616921
  • Striatal degeneration, autosomal dominant, MIM#616922

Green PDE10A in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskinesia, limb and orofacial, infantile-onset, MIM#616921
  • Striatal degeneration, autosomal dominant, MIM# 616922

Green PDE10A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Dyskinesia, limb and orofacial, infantile-onset, MIM#616921

Green PDE10A in Dystonia - isolated/combined


Level 2: Neurology and neurodevelopmental disorders
Version 1.37

Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Early onset chorea without epilepsy
    • infantile onset limb and orofacial dyskinesia (OMIM 616921)

    Red PDE10A in Fetal anomalies


    Version 1.255

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Dyskinesia, limb and orofacial, infantile-onset, MIM#616921
    • Striatal degeneration, autosomal dominant, MIM#616922