Genomics England
GMS Panels
Panels
Genes and Entities

MAP4K4

mitogen-activated protein kinase kinase kinase kinase 4
OMIM: 604666
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MAP4K4-related neurodevelopmental disorder with/without congenital anomalies, multiple congenital anomalies, neurodevelopmental differences
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
RASopathy, MONDO:0021060, MAP4K4-related