Genomics England
GMS Panels
Panels
Genes and Entities

RIPK1

receptor interacting serine/threonine kinase 1
OMIM: 603453
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 57, 618108, Severe immunodeficiency, arthritis, and intestinal inflammation