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IBMDx study

Gene: SRP54

Green List (high evidence)
SRP54 (signal recognition particle 54)
EnsemblGeneIds (GRCh38): ENSG00000100883
EnsemblGeneIds (GRCh37): ENSG00000100883
OMIM: 604857, Gene2Phenotype
SRP54 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

3 unrelated families presented with neutropaenia associated with other symptoms, including exocrine pancreatic deficiency and/or autistic behavior
Created: 29 Feb 2020, 12:17 a.m. | Last Modified: 29 Feb 2020, 12:17 a.m.
Panel Version: 0.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Syndromic neutropenia with Shwachman-Diamond-like features

Publications

Created: 29 Feb 2020, 12:17 a.m.
Last Modified: 29 Feb 2020, 12:17 a.m.
Panel version: Imported from Bone Marrow Failure panel version 0.25

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Syndromic neutropenia with Shwachman-Diamond-like features
OMIM
604857
Clinvar variants
Variants in SRP54
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SRP54 was added gene: SRP54 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: SRP54 was set to Unknown Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features