Genomics England
GMS Panels
Panels
Genes and Entities

PKDCC

protein kinase domain containing, cytoplasmic
OMIM: 614150
PanelMode of inheritanceDetails
1 panel
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic limb shortening with dysmorphic features, OMIM:618821