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| Lipodystrophy_Lipoatrophy v0.14 | OTULIN | Zornitza Stark Marked gene: OTULIN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v0.14 | OTULIN | Zornitza Stark Gene: otulin has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v0.14 | OTULIN | Zornitza Stark Classified gene: OTULIN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v0.14 | OTULIN | Zornitza Stark Gene: otulin has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v0.13 | OTULIN |
Zornitza Stark gene: OTULIN was added gene: OTULIN was added to Lipodystrophy_Lipoatrophy. Sources: Expert list Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OTULIN were set to 27523608; 27559085 Phenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099 Review for gene: OTULIN was set to GREEN Added comment: Autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein, leukocytosis, and neutrophilia in the absence of any infection. At least 3 unrelated families reported. Sources: Expert list |
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