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| COVID-19 research v0.201 | SRP54 | Sophie Hambleton reviewed gene: SRP54: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: severe congenital neutropenia, Shwachman-Diamond syndrome, exocrine pancreatic insufficiency, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v0.40 | SRP54 |
Ellen McDonagh Source Expert Review Green was added to SRP54. Added phenotypes Schwachman Diamond features; Congenital defects of phagocyte number or function for gene: SRP54 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| COVID-19 research v0.36 | SRP54 |
Ellen McDonagh gene: SRP54 was added gene: SRP54 was added to Viral susceptibility. Sources: IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SRP54 were set to 32086639; 28972538; 29914977; 32048120 Phenotypes for gene: SRP54 were set to Schwachman Diamond features; Congenital defects of phagocyte number or function |
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