PKDCC

protein kinase domain containing, cytoplasmic
OMIM: 614150, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PKDCC in Skeletal dysplasia


Level 2: Musculoskeletal
Version 9.13
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Rhizomelic limb shortening with dysmorphic features, OMIM:618821
    Green PKDCC in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.11
    Latest signed off version: v7.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Rhizomelic limb shortening with dysmorphic features, OMIM:618821
    Green PKDCC in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MONDO:0032935
    • PKDCC-related rhizomelic limb shortening with dysmorphic features and short stature
    • OMIM:618821.0