Genomics England
GMS Panels
Panels
Genes and Entities

RIPK1

receptor interacting serine/threonine kinase 1
OMIM: 603453
PanelMode of inheritanceDetails
2 panels
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autoinflammation with episodic fever and lymphadenopathy, OMIM:618852, Immunodeficiency 57 with autoinflammation, OMIM: 618108
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 9.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autoinflammation with episodic fever and lymphadenopathy, OMIM:618852, Immunodeficiency 57 with autoinflammation, OMIM: 618108