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IL6ST

interleukin 6 cytokine family signal transducer

HCNC Approved Symbol
IL6ST (HGNC:6021)
Genomic Coordinates
5:55,935,095 - 55,994,963 (5q11.2)
Synonyms
GP130, CD130, sGP130, IL-6RB
Disease Associations
This gene is associated with the following 4 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
?Immunodeficiency 94 with autoinflammation and dysmorphic facies
619750AD
Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections
619752AD
Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections
618523AR
Stuve-Wiedemann syndrome 2
619751AR

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the IL6ST gene.

Frequently observed phenotypes

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

Recurrent chest infections
 1 (100.0%)
Wheezing
 1 (100.0%)