Cytopenia - NOT Fanconi anaemia
Gene: SRP54

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

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 4 Mar 2022, 9:49 a.m. | Last Modified: 4 Mar 2022, 9:49 a.m.

Panel Version: 1.57

Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - at least 28 unrelated cases with congenital neutropenia due to variants in SRP54
Created: 28 Sep 2020, 2:20 p.m. | Last Modified: 28 Sep 2020, 2:20 p.m.

Panel Version: 1.14

Comment on publications: Added publications to support association with this phenotype.
Created: 28 Sep 2020, 2:20 p.m. | Last Modified: 28 Sep 2020, 2:20 p.m.

Panel Version: 1.13

Created: 28 Sep 2020, 2:20 p.m.
Last Modified: 28 Sep 2020, 2:20 p.m.
Panel version: 1.57

Zornitza Stark (Australian Genomics)

Green List (high evidence)

3 unrelated families presented with neutropaenia associated with other symptoms, including exocrine pancreatic deficiency and/or autistic behavior, phenotypic overlap with Swachman-Diamond syndrome.
Sources: Expert list
Created: 15 Sep 2020, 3:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Syndromic neutropenia with Shwachman-Diamond-like features

Publications

28972538

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Sep 2020, 3:57 a.m.

Panel version: 1.6

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

Neutropenia, severe congenital, 8, autosomal dominant, 618752

OMIM

604857

Clinvar variants

Variants in SRP54

Penetrance

None

Publications

Panels with this gene