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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.369 | FAAP24 |
Eleanor Williams edited their review of gene: FAAP24: Added comment: Not associated with a phenotype in OMIM. PMID: 17289582 - Ciccia et al 2007 - report that FAAP24 (C19ORF40) is a component of the Fanconi anemia (FA) core complex and interacts with the C-terminal region of FANCM. FAAP24 is required for normal levels of FANCD2 monoubiquitylation following DNA damage. PMID: 27473539 - Daschkey et al 2016 - report a homozygous missense mutation in FAAP24 (cC635T, pT212M) in two siblings of a consanguineous Turkish family who died from an EBV-associated lymphoproliferative disease after infection with a variant EBV strain, expressing a previously unknown EBNA2 allele.; Changed rating: RED; Changed phenotypes: EBV-associated lymphoproliferative disease; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 | FAAP24 |
Eleanor Williams Source Other was added to FAAP24. Publications for gene FAAP24 were updated from 32048120; 27473539; 32086639 to 32086639; 17289582; 27473539; 32048120 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 | FAAP24 | Eleanor Williams reviewed gene: FAAP24: Rating: ; Mode of pathogenicity: ; Publications: 17289582, 27473539; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | FAAP24 |
Louise Daugherty Source IUIS Classification December 2019 was added to FAAP24. Added phenotypes Diseases of Immune Dysregulation; EBV infection-driven lymphoproliferative disease for gene: FAAP24 Publications for gene FAAP24 were updated from 27473539 to 32048120; 27473539; 32086639 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease | FAAP24 | Louise Daugherty marked gene: FAAP24 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | FAAP24 | Louise Daugherty commented on gene: FAAP24 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | FAAP24 | Louise Daugherty reviewed gene: FAAP24 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | FAAP24 | Sophie Hambleton reviewed gene: FAAP24 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease | FAAP24 | Louise Daugherty Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||