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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: IL6ST

Green List (high evidence)
IL6ST (interleukin 6 signal transducer)
EnsemblGeneIds (GRCh38): ENSG00000134352
EnsemblGeneIds (GRCh37): ENSG00000134352
OMIM: 600694, Gene2Phenotype
IL6ST is in 4 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyper-IgE syndrome, autosomal dominant
  • Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response
  • Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM#618523
OMIM
600694
Clinvar variants
Variants in IL6ST
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: IL6ST was added gene: IL6ST was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: IL6ST was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: IL6ST were set to 31914175; 12370259; 16041381; 32207811; 30309848; 28747427 Phenotypes for gene: IL6ST were set to Hyper-IgE syndrome, autosomal dominant; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM#618523