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| Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 | IL6ST |
Rebecca Tooze 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 Added comment: • 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: Literature |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | IL11RA | Tracy Lester reviewed gene: IL11RA: Rating: GREEN; Mode of pathogenicity: ; Publications: 21741611, 24002815, 24498618; Phenotypes: Craniosynostosis and dental anomalies, 614188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | IL11RA | Eleanor Williams reviewed gene: IL11RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | IL11RA |
Eleanor Williams Source NHS GMS was added to IL11RA. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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