Genomics England
GMS Panels
Panels
Genes and Entities

PRKACB

protein kinase cAMP-activated catalytic subunit beta
OMIM: 176892
PanelMode of inheritanceDetails
1 panel
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Postaxial hand polydactyly, Postaxial foot polydactyly, Common atrium, Atrioventricular canal defect, Narrow chest, Abnormality of the teeth, Intellectual disability