| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Osteogenesis Imperfecta and Osteoporosis v0.63 | SUCO | Bryony Thompson Marked gene: SUCO as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.63 | SUCO | Bryony Thompson Gene: suco has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.63 | SUCO | Bryony Thompson Classified gene: SUCO as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.63 | SUCO | Bryony Thompson Gene: suco has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.62 | SUCO |
Bryony Thompson gene: SUCO was added gene: SUCO was added to Osteogenesis Imperfecta. Sources: Expert list Mode of inheritance for gene: SUCO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCO were set to 29620724; 20440000 Phenotypes for gene: SUCO were set to Osteogenesis imperfecta Review for gene: SUCO was set to AMBER Added comment: A single case with diffuse osteopenia, multiple fractures with limb deformities, and short long bones, with biallelic variants (a missense and a splice site variant). Also, a null mouse model with acute onset skeletal defects that include impaired bone formation and spontaneous fractures. Sources: Expert list |
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