| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Liver Failure_Paediatric v0.71 | SH2D1A | Zornitza Stark Marked gene: SH2D1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.71 | SH2D1A | Zornitza Stark Gene: sh2d1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.71 | SH2D1A | Zornitza Stark Classified gene: SH2D1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.71 | SH2D1A | Zornitza Stark Gene: sh2d1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.70 | SH2D1A |
Zornitza Stark gene: SH2D1A was added gene: SH2D1A was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SH2D1A were set to 6306053; 9771704 Phenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, X-linked, 1, MIM# 308240 Review for gene: SH2D1A was set to GREEN Added comment: A primary immunodeficiency characterized by severe immune dysregulation often after viral infection, typically with Epstein-Barr virus (EBV). It is a complex phenotype manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis (HLH), and/or malignant lymphoma. Other features may include aplastic anemia, red cell aplasia, and lymphomatoid granulomatosis. Liver dysfunction, hepatic necrosis and liver failure reported. Sources: Expert list |
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