Cytopenia - NOT Fanconi anaemia
Gene: SRPRA
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
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
Gene: srpra has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SRPRA were changed from Severe congenital neutropenia to severe congenital neutropenia, MONDO:0018542
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