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 8.34
Latest signed off version: v8.0 (30 Apr 2025)

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 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    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 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
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MONDO:0032935
    • PKDCC-related rhizomelic limb shortening with dysmorphic features and short stature
    • OMIM:618821.0