COVID-19 researchGene: SRP54
Typically sporadic (de novo) mutations
Created: 7 May 2020, 12:53 p.m. | Last Modified: 7 May 2020, 12:53 p.m.
Panel Version: 0.201
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
severe congenital neutropenia; Shwachman-Diamond syndrome; exocrine pancreatic insufficiency; autism
Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): SRP54 .PanelApp HGNC gene symbol check: SRP54 . IUIS Disease: SRP54 deficiency . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N. IUIS Associated features: Schwachman Diamond features. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Defects of Motility
Created: 6 Jul 2018, 12:36 p.m.
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)
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