Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: IL6ST
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 11:55 a.m. | Last Modified: 11 Oct 2023, 11:55 a.m.
Panel Version: 4.174
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: As reviewed by Rebecca Tooze (University of Oxford), there are two unrelated cases and supporting functional studies in mice. Hence, this gene can be promoted to GREEN at the next GMS update.Created: 10 May 2023, 5:17 p.m. | Last Modified: 10 May 2023, 5:17 p.m.
Panel Version: 4.33
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, OMIM:618523
Publications
• A homozygous non-synonymous variant in IL6ST (p.(Arg281Gln)) was described in a patient with craniosynostosis and retained deciduous teeth. Findings were supported using a mouse model with the missense variant which resulted in lower litter sizes, facial synostosis, and teeth abnormalities. The model phenocopies aspects of IL11RA deficiency in humans and mice (Schwerd et al., 2020).
• A patient with a homozygous variant in IL6ST presented with recurrent infections, eczema, bronchiectasis, high IgE, eosinophilia, defective B cell memory, and an impaired acute-phase response, as well as skeletal abnormalities including craniosynostosis. They were shown to harbour a p.(Asn404Tyr) missense substitution (Schwerd et al., 2017).
Sources: LiteratureCreated: 2 Mar 2023, 1:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q2_23_promote_green was removed from gene: IL6ST.
Source Expert Review Green was added to IL6ST. Source NHS GMS was added to IL6ST. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_23_promote_green tag was added to gene: IL6ST.
Gene: il6st has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: IL6ST were changed from to Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, OMIM:618523
Publications for gene: IL6ST were set to
gene: IL6ST was added gene: IL6ST was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal