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Phagocyte Defects

Gene: SRPRA

Amber List (moderate evidence)
SRPRA (SRP receptor alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000182934
EnsemblGeneIds (GRCh37): ENSG00000182934
OMIM: 182180, Gene2Phenotype
SRPRA is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

De novo variant; zebrafish model. Schwachman-Diamond like.
Created: 9 Mar 2023, 10:14 p.m. | Last Modified: 9 Mar 2023, 10:14 p.m.
Panel Version: 1.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Schwachman-Diamond syndrome MONDO:0009833, SRPA-related

Created: 9 Mar 2023, 10:14 p.m.
Last Modified: 9 Mar 2023, 10:14 p.m.
Panel version: 1.12

Pasquale Barbaro (University of Sydney)

Red List (low evidence)

One denovo variant identified in one patient
Sources: Literature
Created: 5 Mar 2023, 11:33 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neutropenia; myeloid maturation arrest; exocrine pancreatic insufficiency; growth deficiency

Publications

Created: 5 Mar 2023, 11:33 p.m.

Panel version: 1.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Schwachman-Diamond syndrome MONDO:0009833, SRPA-related
OMIM
182180
Clinvar variants
Variants in SRPRA
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: srpra 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: SRPRA were changed from neutropenia; myeloid maturation arrest; exocrine pancreatic insufficiency; growth deficiency to Schwachman-Diamond syndrome MONDO:0009833, SRPA-related

9 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: srpra 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: SRPRA was added gene: SRPRA was added to Phagocyte Defects. Sources: Literature Mode of inheritance for gene: SRPRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRPRA were set to PMID: 36223592 Phenotypes for gene: SRPRA were set to neutropenia; myeloid maturation arrest; exocrine pancreatic insufficiency; growth deficiency Penetrance for gene: SRPRA were set to unknown Review for gene: SRPRA was set to RED