1. Genes and Genomic Entities
  2. PDE4D

PDE4D

phosphodiesterase 4D
OMIM: 600129, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green PDE4D in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Acrodysostosis 2, with or without hormone resistance 614613
    • Acrodysostosis 2, with or without hormone resistance 614613
    Green PDE4D in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ACRODYSOSTOSIS
    Green PDE4D in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ACRODYSOSTOSIS 101800
    Green PDE4D in Intellectual disability


    Level 2: Developmental disorders
    Version 9.343
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Acrodysostosis 2, with or without hormone resistance, 614613
    • Acrodysostosis Orphanet:950
    Green PDE4D in Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis


    Level 2: Endocrinology
    Version 1.10
    Latest signed off version: v1.0 (14 Sep 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Acrodysostosis 2, with or without hormone resistance, OMIM:614613
    • acrodysostosis 2 with or without hormone resistance, MONDO:0013822