Autoinflammatory Disorders

Gene: IL6ST

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

PMID: 33517393 - Materna-Kiryluk et al 2021 - describe a patient with a novel syndrome of neonatal onset immunodeficiency with autoinflammation and dysmorphic features. The patient was found using exome sequencing to have a de novo IL6ST Tyr186_Tyr190del variant, which was present as a mosaic. It was found in around 15–40% of cells depending on the tissue (blood, urine sediment, hair bulbs and buccal swab).
Sources: Literature
Created: 1 Mar 2022, 8:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency 94 with autoinflammation and dysmorphic facies 619750

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Immunodeficiency 94 with autoinflammation and dysmorphic facies 619750
OMIM
600694
Clinvar variants
Variants in IL6ST
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: il6st has been classified as Red List (Low Evidence).

1 Mar 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IL6ST was added gene: IL6ST was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: IL6ST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IL6ST were set to 33517393 Phenotypes for gene: IL6ST were set to Immunodeficiency 94 with autoinflammation and dysmorphic facies 619750 Review for gene: IL6ST was set to RED