Genomics England
GMS Panels
Panels
Genes and Entities

MAP3K14

mitogen-activated protein kinase kinase kinase 14
OMIM: 604655
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Recessive Atypical Combined Immunodeficiency, Primary Immunodeficiency with Multifaceted Aberrant Lymphoid Immunity, Low NK number and function, recurrent bacterial, viral and Cryptosporidium infections, Immunodeficiencies affecting cellular and humoral immunity