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Osteogenesis Imperfecta and Osteoporosis v0.31 | CASR | Zornitza Stark Marked gene: CASR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.31 | CASR | Zornitza Stark Gene: casr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.31 | CASR | Zornitza Stark Classified gene: CASR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.31 | CASR | Zornitza Stark Gene: casr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.30 | CASR |
Zornitza Stark gene: CASR was added gene: CASR was added to Osteogenesis Imperfecta. Sources: Expert list Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: CASR were set to 22620673 Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, MIM# 239200; severe hypercalcemia, bone demineralization, multiple fractures Review for gene: CASR was set to GREEN Added comment: Severe neonatal presentations can be with multiple fractures. Sources: Expert list |