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| Inflammatory bowel disease v0.112 | DUOX2 | Zornitza Stark Mode of inheritance for gene: DUOX2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.111 | DUOX2 | Zornitza Stark Classified gene: DUOX2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.111 | DUOX2 | Zornitza Stark Gene: duox2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.110 | DUOX2 |
Peter McNaughton edited their review of gene: DUOX2: Added comment: 1mo girl with IBD and colonic polyps with compound het variants c.2524C>T and c.3175C>T with functional studies showing decreased H2O2 generation. This case along with previous case reports - PMID: 28683258 & PMID: 35429653 suggest that biallelic DUOX2 variants should be part of evaluation for VEO-IBD.; Changed rating: GREEN; Changed publications: PMID: 38075699; Changed phenotypes: neonatal onset IBD |
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| Inflammatory bowel disease v0.82 | DUOX2 | Zornitza Stark Marked gene: DUOX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.82 | DUOX2 | Zornitza Stark Gene: duox2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.82 | DUOX2 | Zornitza Stark Phenotypes for gene: DUOX2 were changed from Colitis to Inflammatory bowel disease, MONDO:0005265, DUOX2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.81 | DUOX2 | Zornitza Stark Classified gene: DUOX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.81 | DUOX2 | Zornitza Stark Gene: duox2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.80 | DUOX2 | Zornitza Stark reviewed gene: DUOX2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.80 | DUOX2 |
Peter McNaughton gene: DUOX2 was added gene: DUOX2 was added to Inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: DUOX2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DUOX2 were set to PMID: 35429653; 27373512; 26301257; 28683258 Phenotypes for gene: DUOX2 were set to Colitis Review for gene: DUOX2 was set to AMBER Added comment: 4 case reports of early onset colitis (1-4y) associated with monoallelic or biallelic variants in NOX2. Also reported in 15 members of the same Ashkenazi Jewish family with a high incidence of adult-onset CD. Sources: Literature |
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