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| Cytopenia - NOT Fanconi anaemia v3.20 | SRPRA | Achchuthan Shanmugasundram Classified gene: SRPRA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.20 | SRPRA | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.20 | SRPRA | Achchuthan Shanmugasundram Gene: srpra has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.19 | SRPRA | Achchuthan Shanmugasundram Phenotypes for gene: SRPRA were changed from Severe congenital neutropenia to severe congenital neutropenia, MONDO:0018542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.18 | SRPRA | Achchuthan Shanmugasundram reviewed gene: SRPRA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: severe congenital neutropenia, MONDO:0018542; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.4 | SRPRA |
Hannah Knight 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 Added comment: 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: Literature |
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