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| Autoinflammatory Disorders v0.131 | IL6ST | Zornitza Stark Marked gene: IL6ST as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v0.131 | IL6ST | Zornitza Stark Gene: il6st has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v0.131 | IL6ST |
Zornitza Stark 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 Added comment: 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 |
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