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IL2RG

interleukin 2 receptor subunit gamma

HCNC Approved Symbol
IL2RG (HGNC:6010)
Genomic Coordinates
23:71,107,404 - 71,111,577 (Xq13.1)
Synonyms
CD132, SCIDX1, IMD4, CIDX
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Combined immunodeficiency, X-linked, moderate
312863X-linked recessive
Severe combined immunodeficiency, X-linked
300400X-linked recessive

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the IL2RG gene.

Frequently observed phenotypes

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

Chronic diarrhea
 1 (50.0%)
Fever
 1 (50.0%)
Oral ulcer
 1 (50.0%)
Productive cough
 1 (50.0%)
Recurrent infections
 1 (50.0%)