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| BabyScreen+ newborn screening v0.1621 | PRF1 | Zornitza Stark Marked gene: PRF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1621 | PRF1 | Zornitza Stark Gene: prf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1621 | PRF1 |
Zornitza Stark Tag treatable tag was added to gene: PRF1. Tag immunological tag was added to gene: PRF1. |
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| BabyScreen+ newborn screening v0.1621 | PRF1 |
Zornitza Stark changed review comment from: Treatment: Emapalumab, bone marrow transplant; to: Well established gene-disease association. Onset is generally in infancy or early childhood. Treatment: Emapalumab, bone marrow transplant. Non-genetic confirmatory tests: natural killer cell activity, cytotoxic T lymphocyte activity |
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| BabyScreen+ newborn screening v0.1621 | PRF1 | Zornitza Stark edited their review of gene: PRF1: Changed phenotypes: Hemophagocytic lymphohistiocytosis, familial, 2 603553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1621 | PRF1 | Zornitza Stark reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | PRF1 |
Zornitza Stark gene: PRF1 was added gene: PRF1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRF1 were set to Haemophagocytic lymphohistiocytosis, familial, 2, MIM#603553 |
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