Genomics England
GMS Panels
Panels
Genes and Entities

MAPKAPK5

mitogen-activated protein kinase-activated protein kinase 5
OMIM: 606723
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MAPKAPK5-associated syndrome with synpolydactyly
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurocardiofaciodigital syndrome, OMIM:619869
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurocardiofaciodigital syndrome, OMIM:619869
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurocardiofaciodigital syndrome, OMIM:619869