Genomics England
GMS Panels
Panels
Genes and Entities

PRKACB

protein kinase cAMP-activated catalytic subunit beta
OMIM: 176892
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PRKACB-related Multiple Congenital Malformation Syndrome
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardioacrofacial dysplasia 2, OMIM:619143
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardioacrofacial dysplasia 2, OMIM:619143
Green
in Skeletal ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 5.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardioacrofacial dysplasia 2, OMIM:619143