1. Genes and Genomic Entities
  2. PRKCI

PRKCI

protein kinase C iota
OMIM: 600539, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green PRKCI in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.184
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Van der Woude syndrome, MONDO:0019508
Tags
  • gene-checked
Amber PRKCI in Clefting


Level 2: Musculoskeletal
Version 6.23
Latest signed off version: v6.5 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • van der Woude syndrome, MONDO:0019508
    • orofacial cleft, MONDO:0000358
    Tags
    • Q4_25_promote_green
    • gene-checked