| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.117 | IL12RB2 | Ivone Leong Publications for gene: IL12RB2 were set to 30578351; 31953710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.117 | IL12RB2 | Ivone Leong Publications for gene: IL12RB2 were set to 30578351 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.116 | IL12RB2 | Ivone Leong Classified gene: IL12RB2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.116 | IL12RB2 | Ivone Leong Added comment: Comment on list classification: Gene given Red gene status based on expert review. This gene is also found in the IUIS 2019 paper (PMID: 31953710) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.116 | IL12RB2 | Ivone Leong Gene: il12rb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.86 | IL12RB2 |
Zornitza Stark gene: IL12RB2 was added gene: IL12RB2 was added to Primary immunodeficiency. Sources: Expert list Mode of inheritance for gene: IL12RB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL12RB2 were set to 30578351 Phenotypes for gene: IL12RB2 were set to Susceptibility to mycobacteria and Salmonella Review for gene: IL12RB2 was set to RED Added comment: Single individual reported, some functional data. Sources: Expert list |
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