1. Genes and Genomic Entities
  2. PDE1B

PDE1B

phosphodiesterase 1B
OMIM: 171891, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green PDE1B in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.32
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • movement disorder, MONDO:0005395
    Tags
    • gene-checked
    No list PDE1B in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Literature
    Phenotypes
    • hypotonia
    • ataxia
    • dystonia
    • developmental delay
    • intellectual disability
    Tags
    • curated_removed
    Amber PDE1B in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • movement disorder, MONDO:0005395
    • intellectual disability, MONDO:0001071
    Tags
    • gene-checked
    Green PDE1B in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • movement disorder, MONDO:0005395
    Tags
    • gene-checked