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  3. IL6ST
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Fetal anomalies

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Soo-Mi Park (Cambridge University Hospital NHS Foundation Trust)

Green List (high evidence)

Green gene on R15 and R100. Biallelic LoF variants in IL6ST lead to Stuve-Wiedemann syndrome-2 (STWS2), an AR mainly lethal skeletal dysplasia characterised by short stature, small chest, severe shortening and bowing of the long bones, and neonatal cardiopulmonary and autonomous dysfunction. Additional variable features include dolichocephaly, joint dislocations and abnormal bone mineralization, severe scoliosis, camptodactyly, high palate, congenital thrombocytopenia, eczematoid dermatitis, renal anomalies, and defective acute-phase response. 6 individuals from unrelated families reported to date. (Bi-allelic mainly missense variant lead to Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections characterised by immune featurs and skeletal features including joint contractures/dislocations, scoliosis, craniosynostosis; Heterozygous IL6ST variants also lead to AD Hyper IgE syndrome).
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stuve-Wiedemann syndrome 2, OMIM:619751

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Stuve-Wiedemann syndrome 2, OMIM:619751
OMIM
600694
Clinvar variants
Variants in IL6ST
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Stuve-Wiedemann syndrome 2, OMIM:619751 for gene: IL6ST

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: IL6ST was added gene: IL6ST was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal