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| Inflammatory bowel disease v1.0 | CYBC1 | Gene symbol changed from C17orf62 to CYBC1 during gene set migration (ENSG00000178927 -> ENSG00000178927) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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