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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.113 | POLR3F | Ivone Leong Classified gene: POLR3F as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.113 | POLR3F | 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 v2.113 | POLR3F | Ivone Leong Gene: polr3f has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.112 | POLR3F | Ivone Leong Publications for gene: POLR3F were set to 30211253 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.86 | POLR3F |
Zornitza Stark gene: POLR3F was added gene: POLR3F was added to Primary immunodeficiency. Sources: Expert list Mode of inheritance for gene: POLR3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR3F were set to 30211253 Phenotypes for gene: POLR3F were set to Severe VZV infection Review for gene: POLR3F was set to RED Added comment: Missense variant identified in a pair of monozygotic twins. Variant was paternally inherited. Sources: Expert list |
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