Genomics England
GMS Panels
Panels
Genes and Entities

CHUK

conserved helix-loop-helix ubiquitous kinase
OMIM: 600664
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COCOON SYNDROME 613630
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cocoon syndrome, OMIM:613630, Popliteal pterygium syndrome, Bartsocas-Papas type 2, OMIM:619339