Genomics England
GMS Panels
Panels
Genes and Entities

STK4

serine/threonine kinase 4
OMIM: 604965
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity, T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868, AR hyperimmunoglobulin E syndrome, Combined immunodeficiency, Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease, Immunodeficiencies affecting cellular and humoral immunity