PDE1B:Ensemblv90

phosphodiesterase 1B
OMIM: 171891, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PDE1B in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related

Green PDE1B in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related

Green PDE1B in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 1.162

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related

    Green PDE1B in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.290

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related

    Green PDE1B in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related

    Green PDE1B in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related