Genomics England
GMS Panels
Panels
Genes and Entities

PRKACA

protein kinase cAMP-activated catalytic subunit alpha
OMIM: 601639
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
PRKACA-related Multiple Congenital Malformation Syndrome
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardioacrofacial dysplasia 1, OMIM:619142
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardioacrofacial dysplasia 1, OMIM:619142
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, NOT imprinted
Phenotypes
Cardioacrofacial dysplasia 1, OMIM:619142