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| Phagocyte Defects v1.12 | SRP19 | Zornitza Stark changed review comment from: Five individuals from two branches of a consanguineous family, good segregation data. Zebrafish model.; to: Five individuals from two branches of a consanguineous family, good segregation data. Zebrafish model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.12 | SRP19 | Zornitza Stark Marked gene: SRP19 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.12 | SRP19 | Zornitza Stark Gene: srp19 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.12 | SRP19 | Zornitza Stark Phenotypes for gene: SRP19 were changed from neutropenia; myeloid maturation arrest; growth deficiency to Neutropenia, MONDO:0001475, SRP19-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.11 | SRP19 | Zornitza Stark Classified gene: SRP19 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.11 | SRP19 | Zornitza Stark Gene: srp19 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.10 | SRP19 | Zornitza Stark edited their review of gene: SRP19: Added comment: Five individuals from two branches of a consanguineous family, good segregation data. Zebrafish model.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.10 | SRP19 | Zornitza Stark reviewed gene: SRP19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, MONDO:0001475, SRP19-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.10 | SRP19 |
Pasquale Barbaro gene: SRP19 was added gene: SRP19 was added to Phagocyte Defects. Sources: Literature Mode of inheritance for gene: SRP19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRP19 were set to PMID: 36223592 Phenotypes for gene: SRP19 were set to neutropenia; myeloid maturation arrest; growth deficiency Penetrance for gene: SRP19 were set to unknown Review for gene: SRP19 was set to RED Added comment: Reported in 5 patients from one kindred Sources: Literature |
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