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| BabyScreen+ newborn screening v0.1268 | HSD3B7 | Zornitza Stark Marked gene: HSD3B7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1268 | HSD3B7 | Zornitza Stark Gene: hsd3b7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1268 | HSD3B7 | Zornitza Stark Phenotypes for gene: HSD3B7 were changed from 3 beta-hydroxysteroid dehydrogenase deficiency to Bile acid synthesis defect, congenital, 1 MIM#607765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1267 | HSD3B7 |
Zornitza Stark Tag treatable tag was added to gene: HSD3B7. Tag liver tag was added to gene: HSD3B7. |
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| BabyScreen+ newborn screening v0.1267 | HSD3B7 | Zornitza Stark reviewed gene: HSD3B7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30373615; Phenotypes: Bile acid synthesis defect, congenital, 1 MIM#607765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | HSD3B7 |
Zornitza Stark gene: HSD3B7 was added gene: HSD3B7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD3B7 were set to 3 beta-hydroxysteroid dehydrogenase deficiency |
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