| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Inflammatory bowel disease v0.84 | NOX1 | Zornitza Stark Marked gene: NOX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.84 | NOX1 | Zornitza Stark Gene: nox1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.84 | NOX1 | Zornitza Stark Phenotypes for gene: NOX1 were changed from Inflammatory bowel disease to Inflammatory bowel disease, MONDO:0005265, NOX1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.83 | NOX1 | Zornitza Stark edited their review of gene: NOX1: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.83 | NOX1 | Zornitza Stark Classified gene: NOX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.83 | NOX1 | Zornitza Stark Gene: nox1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.83 | NOX1 | Zornitza Stark Classified gene: NOX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.83 | NOX1 | Zornitza Stark Gene: nox1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.82 | NOX1 | Zornitza Stark reviewed gene: NOX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32064493; Phenotypes: Inflammatory bowel disease, MONDO:0005265, NOX1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.82 | NOX1 |
Peter McNaughton gene: NOX1 was added gene: NOX1 was added to Inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: NOX1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NOX1 were set to PMID: 29091079; 32064493 Phenotypes for gene: NOX1 were set to Inflammatory bowel disease Review for gene: NOX1 was set to AMBER Added comment: 8 IBD patients with early onset of IBD with progressive and severe colonic disease, refractory to conventional therapy and functional studies suggesting variant-dependent loss of NOX1-mediated superoxide generation. However, high frequency of nonsynonymous mutations in NOX1 suggests that NOX1 is not a highly penetrant Mendelian disorder and that other genetic modifiers or environmental factors may contribute to disease pathogenesis Sources: Literature |
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