3billion
back to listBack to List

RIPK1

receptor interacting serine/threonine kinase 1

HCNC Approved Symbol
RIPK1 (HGNC:10019)
Genomic Coordinates
6:3,063,967 - 3,115,187 (6p25.2)
Synonyms
RIP, RIP1, RIP-1
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the RIPK1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Cd4+ t-cell lymphopenia
 1 (50.0%)
Combined immunodeficiency
 1 (50.0%)
Hypogammaglobulinemia
 1 (50.0%)
Myocarditis
 1 (50.0%)
Neurodevelopmental delay
 1 (50.0%)
RIPK1 - Gene browser | 3billion