| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Osteogenesis Imperfecta and Osteoporosis v1.5 | TNFRSF11B | Bryony Thompson Marked gene: TNFRSF11B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.5 | TNFRSF11B | Bryony Thompson Gene: tnfrsf11b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.5 | TNFRSF11B | Bryony Thompson Classified gene: TNFRSF11B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.5 | TNFRSF11B | Bryony Thompson Gene: tnfrsf11b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.4 | TNFRSF11B |
Bryony Thompson gene: TNFRSF11B was added gene: TNFRSF11B was added to Osteogenesis Imperfecta and Osteoporosis. Sources: Literature Mode of inheritance for gene: TNFRSF11B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TNFRSF11B were set to 24743232; 40735895; 29578045; 33559312; 33989379; 35412619; 14672344 Phenotypes for gene: TNFRSF11B were set to juvenile Paget disease MONDO:0009394; chondrocalcinosis 1 MONDO:0010917 Review for gene: TNFRSF11B was set to GREEN gene: TNFRSF11B was marked as current diagnostic Added comment: Fractures and osteoporosis can be a features of both Paget disease and chondrocalcinosis. Biallelic loss-of-function variants cause Paget disease, and a single monoallelic recurrent stoploss variant is associated with chondrocalcinosis. Sources: Literature |
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