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| BabyScreen+ newborn screening v0.2091 | P3H1 | Zornitza Stark Marked gene: P3H1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2091 | P3H1 | Zornitza Stark Gene: p3h1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2091 | P3H1 | Zornitza Stark Classified gene: P3H1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2091 | P3H1 | Zornitza Stark Gene: p3h1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2090 | P3H1 |
Zornitza Stark gene: P3H1 was added gene: P3H1 was added to Baby Screen+ newborn screening. Sources: Expert Review treatable, skeletal tags were added to gene: P3H1. Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: P3H1 were set to 17277775; 18566967 Phenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII, (MIM# 610915) Review for gene: P3H1 was set to GREEN Added comment: More than 15 families reported. Congenital onset. Treatment: bisphosphanates. Non-genetic confirmatory testing: skeletal survey. Sources: Expert Review |
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