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| Inflammatory bowel disease v0.93 | NLRC4 | Zornitza Stark Marked gene: NLRC4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.93 | NLRC4 | Zornitza Stark Gene: nlrc4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.93 | NLRC4 | Zornitza Stark Phenotypes for gene: NLRC4 were changed from Infantile onset enterocolitis and autoinflammation to Autoinflammation with infantile enterocolitis, MIM# 616050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.92 | NLRC4 | Zornitza Stark Publications for gene: NLRC4 were set to PMID: 25217960 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.91 | NLRC4 | Zornitza Stark edited their review of gene: NLRC4: Changed publications: 25217959, 25217960 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.91 | NLRC4 | Zornitza Stark edited their review of gene: NLRC4: Changed publications: 25217959 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.91 | NLRC4 | Zornitza Stark Classified gene: NLRC4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.91 | NLRC4 | Zornitza Stark Gene: nlrc4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.90 | NLRC4 | Zornitza Stark reviewed gene: NLRC4: Rating: AMBER; Mode of pathogenicity: None; Publications: 25217960; Phenotypes: Autoinflammation with infantile enterocolitis 616050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.84 | NLRC4 |
Peter McNaughton gene: NLRC4 was added gene: NLRC4 was added to Inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: NLRC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NLRC4 were set to PMID: 25217960 Phenotypes for gene: NLRC4 were set to Infantile onset enterocolitis and autoinflammation Mode of pathogenicity for gene: NLRC4 was set to Other Review for gene: NLRC4 was set to AMBER Added comment: Infant presenting at 1 week of life with secretory diarrhea and fever with p.Val341Ala variant. Cellular model demonstrating gain of function Sources: Literature |
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