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  3. SRP54
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Phagocyte Defects

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)

Over 25 individuals reported with Shwachman-Diamond like phenotype.
Sources: Expert list
Created: 5 Apr 2020, 5:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752

Publications

Created: 5 Apr 2020, 5:14 a.m.

Panel version: 0.16

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752
OMIM
604857
Clinvar variants
Variants in SRP54
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srp54 has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srp54 has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SRP54 was added gene: SRP54 was added to Phagocyte Defects. Sources: Expert list Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRP54 were set to 29914977; 28972538 Phenotypes for gene: SRP54 were set to Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752 Review for gene: SRP54 was set to GREEN