| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| BabyScreen+ newborn screening v0.2097 | SERPINH1 | Zornitza Stark Marked gene: SERPINH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2097 | SERPINH1 | Zornitza Stark Gene: serpinh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2097 | SERPINH1 | Zornitza Stark Classified gene: SERPINH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2097 | SERPINH1 | Zornitza Stark Gene: serpinh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2096 | SERPINH1 |
Zornitza Stark gene: SERPINH1 was added gene: SERPINH1 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, skeletal tags were added to gene: SERPINH1. Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINH1 were set to 29520608; 25510505; 33524049 Phenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta, type X, MIM# 613848 Review for gene: SERPINH1 was set to GREEN Added comment: Established gene-disease association. Onset of fractures is in infancy. Treatment: bisphosphanates. Non-genetic confirmatory testing: skeletal survey. Sources: Expert list |
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