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| Phagocyte Defects v1.9 | OTULIN | Zornitza Stark Phenotypes for gene: OTULIN were changed from Susceptibility to infection with Staphylococcus aureus; Hereditary predisposition to infections, MONDO:0015979, OTULIN-related to Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.8 | OTULIN | Zornitza Stark edited their review of gene: OTULIN: Changed phenotypes: Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.8 | OTULIN | Zornitza Stark Marked gene: OTULIN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.8 | OTULIN | Zornitza Stark Gene: otulin has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.8 | OTULIN | Zornitza Stark Classified gene: OTULIN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.8 | OTULIN | Zornitza Stark Gene: otulin has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.7 | OTULIN |
Zornitza Stark gene: OTULIN was added gene: OTULIN was added to Phagocyte Defects. Sources: Literature Mode of inheritance for gene: OTULIN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OTULIN were set to 35587511 Phenotypes for gene: OTULIN were set to Susceptibility to infection with Staphylococcus aureus; Hereditary predisposition to infections, MONDO:0015979, OTULIN-related Review for gene: OTULIN was set to GREEN Added comment: Multiple individuals reported with haploinsufficiency of OTULIN and severe staphylococcal disease, with life-threatening skin or pulmonary necrosis. Functional data. Note bi-allelic variants case early-onset autoinflammatory condition called OTULIN-related autoinflammatory syndrome (ORAS). Sources: Literature |
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