Genomics England
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Genes and Entities
RIPK1
receptor interacting serine/threonine kinase 1
OMIM:
603453
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Panel
Mode of inheritance
Details
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Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers:
R15
Signed-off version 6.12
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 57, 618108, Severe immunodeficiency, arthritis, and intestinal inflammation