Cytopenia - NOT Fanconi anaemia
Gene: SRPRAEnsemblGeneIds (GRCh38): ENSG00000182934
EnsemblGeneIds (GRCh37): ENSG00000182934
OMIM: 182180, Gene2Phenotype
SRPRA is in 1 panel
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reviewed by Hannah Knight, there is one case and functional studies (including zebrafish model) available in support of the association of this gene with severe congenital neutropenia. Hence, this gene can be rated amber with current evidence.Created: 10 Nov 2023, 3:06 p.m. | Last Modified: 10 Nov 2023, 3:06 p.m.
Panel Version: 3.20
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
severe congenital neutropenia, MONDO:0018542
Hannah Knight (NIHR BioResource - University of Cambridge)
PMID: 36223592 - A novel heterozygous de novo variant in SRPRA was found in 1 pedigree with 1 patient (p.Gln464Glu) - results in an amino acid exchange (glutamine to glutamic acid, position 464) in an alpha helix loop close to the GTPase active center known to mediate interaction with the cognate-binding partner, SRP54 (known cause of SCN)
+ functional studies
Sources: LiteratureCreated: 13 Oct 2023, 10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Severe congenital neutropenia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- severe congenital neutropenia, MONDO:0018542
- OMIM
- 182180
- Clinvar variants
- Variants in SRPRA
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: srpra has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SRPRA were changed from Severe congenital neutropenia to severe congenital neutropenia, MONDO:0018542
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Hannah Knight (NIHR BioResource - University of Cambridge)gene: SRPRA was added gene: SRPRA was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature Mode of inheritance for gene: SRPRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRPRA were set to 36223592 Phenotypes for gene: SRPRA were set to Severe congenital neutropenia Review for gene: SRPRA was set to AMBER