| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Inflammatory bowel disease v0.100 | C17orf62 | Bryony Thompson Marked gene: C17orf62 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.100 | C17orf62 | Bryony Thompson Gene: c17orf62 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.100 | C17orf62 | Bryony Thompson Classified gene: C17orf62 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.100 | C17orf62 | Bryony Thompson Gene: c17orf62 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.99 | C17orf62 |
Aimee Huynh gene: C17orf62 was added gene: C17orf62 was added to Inflammatory bowel disease. Sources: Expert Review Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C17orf62 were set to 28600779, 30361506 Phenotypes for gene: C17orf62 were set to Chronic granulomatous disease Penetrance for gene: C17orf62 were set to unknown Review for gene: C17orf62 was set to AMBER gene: C17orf62 was marked as current diagnostic Added comment: Homozygous LOF mutation leading to CYBC1 deficiency causes CGD in pair of Icelandic brothers and 6 other individuals - colitis an early feature. Brothers diagnosed with Crohn's at ages 7 and 9 years. 3 out of 6 other individuals also had colitis. Sources: Expert Review |
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