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| BabyScreen+ newborn screening v0.1679 | CFTR | Zornitza Stark Tag respiratory tag was added to gene: CFTR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.268 | CFTR | Zornitza Stark Tag treatable tag was added to gene: CFTR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.268 | CFTR | Zornitza Stark Marked gene: CFTR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.268 | CFTR | Zornitza Stark Gene: cftr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.268 | CFTR |
Zornitza Stark changed review comment from: Well established gene-disease association. Typically presents in infancy and early childhood. Early treatment improves outcomes. Non-genetic confirmatory testing available.; to: Well established gene-disease association. Typically presents in infancy and early childhood. Early treatment improves outcomes. Non-genetic confirmatory testing available: sweat test. |
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| BabyScreen+ newborn screening v0.268 | CFTR | Zornitza Stark reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis, MIM# 219700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.199 | CFTR | John Christodoulou reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | CFTR |
Zornitza Stark gene: CFTR was added gene: CFTR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFTR were set to Cystic fibrosis, MIM#219700 |
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