| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genomic newborn screening: BabyScreen+ v0.2095 | SERPINF1 | Zornitza Stark Marked gene: SERPINF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2095 | SERPINF1 | Zornitza Stark Gene: serpinf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2095 | SERPINF1 | Zornitza Stark Classified gene: SERPINF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2095 | SERPINF1 | Zornitza Stark Gene: serpinf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2094 | SERPINF1 |
Zornitza Stark gene: SERPINF1 was added gene: SERPINF1 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, skeletal tags were added to gene: SERPINF1. Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINF1 were set to 28689307 Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI, MIM# 613982 Review for gene: SERPINF1 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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