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| BabyScreen+ newborn screening v0.1272 | HSD3B2 | John Christodoulou reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26079780, PMID: 33757164; Phenotypes: adrenal insufficiency, hypspadias, pseudohermaphroditism in males, mild masculinization in females; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1268 | HSD3B2 | Zornitza Stark Marked gene: HSD3B2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1268 | HSD3B2 | Zornitza Stark Gene: hsd3b2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1268 | HSD3B2 |
Zornitza Stark Tag treatable tag was added to gene: HSD3B2. Tag endocrine tag was added to gene: HSD3B2. |
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| BabyScreen+ newborn screening v0.1268 | HSD3B2 | Zornitza Stark reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | HSD3B2 |
Zornitza Stark gene: HSD3B2 was added gene: HSD3B2 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810 |
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