Bone Marrow Failure
Gene: SRP54

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

2 reviews

Raja Vasireddy (Children's Hospital at Westmead)

Green List (high evidence)

SRP54 mutations reported in 23 cases (16 sporadic and 7 familial) in a French Congenital Neutropenia cohort.
Created: 29 Mar 2023, 1:17 a.m. | Last Modified: 29 Mar 2023, 1:17 a.m.

Panel Version: 1.32

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neutropenia; promyelocytic maturation arrest; neurodevelopmental delay; exocrine pancreatic insuffciency.

Publications

PMID: 29914977

Created: 29 Mar 2023, 1:17 a.m.
Last Modified: 29 Mar 2023, 1:17 a.m.
Panel version: 1.32

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

28972538

Created: 29 Feb 2020, 12:17 a.m.
Last Modified: 29 Feb 2020, 12:17 a.m.
Panel version: 0.25

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Syndromic neutropenia with Shwachman-Diamond-like features

OMIM

604857

Clinvar variants

Variants in SRP54

Penetrance

None

Publications

28972538

Panels with this gene