Genomics England
GMS Panels
Panels
Genes and Entities

IL6ST

interleukin 6 signal transducer
OMIM: 600694
PanelMode of inheritanceDetails
2 panels
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections, OMIM:619752, ?Immunodeficiency 94 with autoinflammation and dysmorphic facies, OMIM:619750, Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections, OMIM:618523, Stuve-Wiedemann syndrome 2, OMIM:619751
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, OMIM:618523