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Phagocyte Defects

Gene: SRP19

Amber List (moderate evidence)
SRP19 (signal recognition particle 19)
EnsemblGeneIds (GRCh38): ENSG00000153037
EnsemblGeneIds (GRCh37): ENSG00000153037
OMIM: 182175, Gene2Phenotype
SRP19 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Five individuals from two branches of a consanguineous family, good segregation data. Zebrafish model.
Created: 9 Mar 2023, 9:51 p.m. | Last Modified: 9 Mar 2023, 9:52 p.m.
Panel Version: 1.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neutropenia, MONDO:0001475, SRP19-related

Created: 9 Mar 2023, 9:46 p.m.
Last Modified: 9 Mar 2023, 9:52 p.m.
Panel version: 1.10

Pasquale Barbaro (University of Sydney)

Red List (low evidence)

Reported in 5 patients from one kindred
Sources: Literature
Created: 5 Mar 2023, 11:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neutropenia; myeloid maturation arrest; growth deficiency

Publications

Created: 5 Mar 2023, 11:31 p.m.

Panel version: 1.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neutropenia, MONDO:0001475, SRP19-related
OMIM
182175
Clinvar variants
Variants in SRP19
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

9 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srp19 has been classified as Amber List (Moderate Evidence).

9 Mar 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SRP19 were changed from neutropenia; myeloid maturation arrest; growth deficiency to Neutropenia, MONDO:0001475, SRP19-related

9 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srp19 has been classified as Amber List (Moderate Evidence).

5 Mar 2023, Gel status: 0

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

Pasquale Barbaro (University of Sydney)

gene: SRP19 was added gene: SRP19 was added to Phagocyte Defects. Sources: Literature Mode of inheritance for gene: SRP19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRP19 were set to PMID: 36223592 Phenotypes for gene: SRP19 were set to neutropenia; myeloid maturation arrest; growth deficiency Penetrance for gene: SRP19 were set to unknown Review for gene: SRP19 was set to RED