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| Craniosynostosis v1.64 | IL6ST | Zornitza Stark Marked gene: IL6ST as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.64 | IL6ST | Zornitza Stark Gene: il6st has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.64 | IL6ST | Zornitza Stark Classified gene: IL6ST as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.64 | IL6ST | Zornitza Stark Gene: il6st has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.61 | IL6ST |
Yetong Chen gene: IL6ST was added gene: IL6ST was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL6ST were set to 32566365; 28747427 Phenotypes for gene: IL6ST were set to Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, MIM# 618523 Review for gene: IL6ST was set to AMBER Added comment: PMID 32566365 describes a patient with homozygous IL6ST variants (p.R281Q) who had craniosynostosis. Abnormalities in nasofrontal sutures and reduced interdigitation of premaxillary sutures were seen in mouse models with homozygous R281Q variants in the IL6ST gene. PMID 28747427 report a patient with homozygous IL6ST variants (p.N404Y) who had craniosynostosis. Sources: Expert Review |
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