Genomics England
GMS Panels
Panels
Genes and Entities

PKDCC

protein kinase domain containing, cytoplasmic
OMIM: 614150
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MONDO:0032935, PKDCC-related rhizomelic limb shortening with dysmorphic features and short stature, OMIM:618821.0
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic limb shortening with dysmorphic features, OMIM:618821
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic limb shortening with dysmorphic features, OMIM:618821