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| Lipodystrophy - childhood onset v3.3 | OTULIN | Catherine Snow Tag Q2_21_rating was removed from gene: OTULIN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v3.3 | OTULIN | Catherine Snow commented on gene: OTULIN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v3.2 | OTULIN |
Catherine Snow Source Expert Review Green was added to OTULIN. Source NHS GMS was added to OTULIN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Lipodystrophy - childhood onset v2.15 | OTULIN | Ivone Leong Classified gene: OTULIN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v2.15 | OTULIN | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v2.15 | OTULIN | Ivone Leong Gene: otulin has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v2.14 | OTULIN | Ivone Leong Tag Q2_21_rating tag was added to gene: OTULIN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v2.12 | OTULIN | Ivone Leong Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099 to Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v2.9 | OTULIN |
Zornitza Stark gene: OTULIN was added gene: OTULIN was added to Lipodystrophy - childhood onset. Sources: Expert Review 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 gene: OTULIN was marked as current diagnostic 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 Review |
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