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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