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COVID-19 research

Gene: SRP54

Green List (high evidence)
SRP54 (signal recognition particle 54)
EnsemblGeneIds (GRCh38): ENSG00000100883
EnsemblGeneIds (GRCh37): ENSG00000100883
OMIM: 604857, Gene2Phenotype
SRP54 is in 6 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

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

Phenotypes
severe congenital neutropenia; Shwachman-Diamond syndrome; exocrine pancreatic insufficiency; autism

Created: 7 May 2020, 12:53 p.m.
Last Modified: 7 May 2020, 12:53 p.m.
Panel version: 0.201

Louise Daugherty (Genomics England Curator)

I don't know

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.

Publications

Created: 6 Jul 2018, 12:36 p.m.

Panel version: Imported from Primary immunodeficiency panel version 2.36

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Schwachman Diamond features
  • Congenital defects of phagocyte number or function
OMIM
604857
Clinvar variants
Variants in SRP54
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

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)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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