Genomics England
GMS Panels
Panels
Genes and Entities

MAPKAPK5

mitogen-activated protein kinase-activated protein kinase 5
OMIM: 606723
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
MAPKAPK5-associated syndrome with synpolydactyly
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurocardiofaciodigital syndrome, OMIM:619869