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Intellectual disability

Gene: SRP54

Amber List (moderate evidence)

SRP54 (signal recognition particle 54)
EnsemblGeneIds (GRCh38): ENSG00000100883
EnsemblGeneIds (GRCh37): ENSG00000100883
OMIM: 604857, Gene2Phenotype
SRP54 is in 4 panels

1 review

Catherine Snow (Genomics England)

Comment on list classification: Gene identified in literature PMID:30914295 as missing in PanelApp compared to other curated gene list for ID genes.

SRP54 is not associated with a disease phenotype in OMIM, however is probable in Gene2Phenotype identified as SRP54 Disease: Syndromic neutropenia with Shwachman-Diamond-like features, ID is not listed as a phenotype.

The gene has been identified in the following paper - Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features (PMID:28972538).

3 non related families presented with neutropenia associated with a host of various other symptoms, including exocrine pancreatic deficiency (2 of 3 patients) and/or autistic behavior (documented in 2 of 3 patients; not accessible in the third, patient, due to early death).
It should be noted that several potentially pathogenic CNVs encompassing SRP54 have been reported in studies referring to unrelated phenotypes (Supplemental Table 3), and ID/DD phenotype is reported amongst a majority of these individuals.

SRP54 will be classified as Amber and will be added to the watchlist as this is the first time a pathogenic single nucleotide variant or indel has been reported and ID is not the predominant phenotype for the disease presentation.
Created: 4 Jun 2019, 2:57 p.m. | Last Modified: 17 Jul 2019, 3:08 p.m.
Panel Version: 0.201

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic neutropenia with Shwachman-Diamond-like features
Tags
watchlist
OMIM
604857
Clinvar variants
Variants in SRP54
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

Tag watchlist tag was added to gene: SRP54.

25 Jul 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene SRP54 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

25 Jul 2019, Gel status: 2

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

Catherine Snow (Genomics England)

gene: SRP54 was added gene: SRP54 was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: SRP54 was set to Publications for gene: SRP54 were set to 28972538; 30914295 Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features