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| BabyScreen+ newborn screening v1.114 | MESD |
Tommy Li Added phenotypes Osteogenesis imperfecta, type XX, MIM# 618644 for gene: MESD Publications for gene MESD were updated from 31564437; 35092157; 33596325; 31564437 to 31564437; 35092157; 33596325 |
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| BabyScreen+ newborn screening v0.2089 | MESD | Zornitza Stark Marked gene: MESD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2089 | MESD | Zornitza Stark Gene: mesd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2089 | MESD | Zornitza Stark Classified gene: MESD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2089 | MESD | Zornitza Stark Gene: mesd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2088 | MESD |
Zornitza Stark gene: MESD was added gene: MESD was added to Baby Screen+ newborn screening. Sources: Expert Review treatable, skeletal tags were added to gene: MESD. Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MESD were set to 31564437; 35092157; 33596325; 31564437 Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM# 618644 Review for gene: MESD was set to GREEN Added comment: More than 5 families reported. Severe form of OI, some perinatal lethal. Treatment: bisphosphanates. Non-genetic confirmatory testing: skeletal survey. Sources: Expert Review |
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