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| Cytopenia - NOT Fanconi anaemia v3.18 | SRP19 | Achchuthan Shanmugasundram Classified gene: SRP19 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.18 | SRP19 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are two related families with severe congenital neutropenia and functional studies in support of this association. Hence, this gene can be rated amber with current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.18 | SRP19 | Achchuthan Shanmugasundram Gene: srp19 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.17 | SRP19 | Achchuthan Shanmugasundram Phenotypes for gene: SRP19 were changed from Severe congenital neutropenia to severe congenital neutropenia, MONDO:0018542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.16 | SRP19 | Achchuthan Shanmugasundram reviewed gene: SRP19: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: severe congenital neutropenia, MONDO:0018542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.4 | SRP19 |
Hannah Knight gene: SRP19 was added gene: SRP19 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature Mode of inheritance for gene: SRP19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRP19 were set to 36223592 Phenotypes for gene: SRP19 were set to Severe congenital neutropenia Review for gene: SRP19 was set to AMBER Added comment: PMID: 36223592 - a novel homozygous variant in SRP19 was identified in 2 related pedigrees with 5 patients affected (c.189+5G>A) + functional studies Sources: Literature |
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