1. Genes and Genomic Entities
  2. PDE1B

PDE1B

phosphodiesterase 1B
OMIM: 171891, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber PDE1B in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • movement disorder, MONDO:0005395
    Tags
    • Q3_25_promote_green
    • Q3_25_NHS_review
    No list PDE1B in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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 9.279
    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
    • Literature
    Phenotypes
    • movement disorder, MONDO:0005395
    • intellectual disability, MONDO:0001071
    Amber PDE1B in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • movement disorder, MONDO:0005395
    Tags
    • Q3_25_promote_green