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RAG1

recombination activating 1

HCNC Approved Symbol
RAG1 (HGNC:9831)
Genomic Coordinates
11:36,510,353 - 36,579,762 (11p12)
Synonyms
RNF74, MGC43321
Disease Associations
This gene is associated with the following 4 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
609889-
Combined cellular and humoral immune defects with granulomas
233650AR
Omenn syndrome
603554AR
Severe combined immunodeficiency, B cell-negative
601457AR

Diagnosed Cases

13Patients

In total, 13 patients were diagnosed with a variant in the RAG1 gene.

Frequently observed phenotypes

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

Immunodeficiency, severe combined
 2 (15.4%)
Humoral immunodeficiency
 2 (15.4%)
Autoimmune hemolytic anemia
 2 (15.4%)
Autoimmune thrombocytopenia
 2 (15.4%)
Chronic infection
 2 (15.4%)