IL6ST

interleukin 6 signal transducer
OMIM: 600694
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyper-IgE recurrent infection syndrome 4, autosomal recessive 618523, Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response., Hyper-IgE syndrome, autosomal dominant