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| BabyScreen+ newborn screening v0.1714 | STXBP2 |
Zornitza Stark Tag treatable tag was added to gene: STXBP2. Tag immunological tag was added to gene: STXBP2. |
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| BabyScreen+ newborn screening v0.1522 | STXBP2 | Seb Lunke Marked gene: STXBP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1522 | STXBP2 | Seb Lunke Gene: stxbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1522 | STXBP2 | Seb Lunke Phenotypes for gene: STXBP2 were changed from Haemophagocytic lymphohistiocytosis, MIM#613101 to Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1521 | STXBP2 |
Seb Lunke changed review comment from: Established gene-disease association. Childhood onset, multi-system disorder Treatment: Emapalumab ,Hematopoietic stem cell transplantation (HSCT) - bone marrow transplant Non-genetic confirmatory test: natural killer cell activity, cytotoxic T lymphocyte activity; to: Established gene-disease association. Childhood onset, hyperinflammatory disorder Treatment: Emapalumab ,Hematopoietic stem cell transplantation (HSCT) - bone marrow transplant Non-genetic confirmatory test: natural killer cell activity, cytotoxic T lymphocyte activity |
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| BabyScreen+ newborn screening v0.1521 | STXBP2 | Seb Lunke reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | STXBP2 |
Zornitza Stark gene: STXBP2 was added gene: STXBP2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STXBP2 were set to Haemophagocytic lymphohistiocytosis, MIM#613101 |
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