| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Osteogenesis Imperfecta and Osteoporosis v1.3 | EMILIN1 | Bryony Thompson Marked gene: EMILIN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.3 | EMILIN1 | Bryony Thompson Gene: emilin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.3 | EMILIN1 | Bryony Thompson Phenotypes for gene: EMILIN1 were changed from arterial tortuosity-bone fragility syndrome to arterial tortuosity-bone fragility syndrome MONDO:0971179 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.2 | EMILIN1 | Bryony Thompson Classified gene: EMILIN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.2 | EMILIN1 | Bryony Thompson Gene: emilin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v1.1 | EMILIN1 |
Bryony Thompson gene: EMILIN1 was added gene: EMILIN1 was added to Osteogenesis Imperfecta and Osteoporosis. Sources: Literature Mode of inheritance for gene: EMILIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EMILIN1 were set to 36351433 Phenotypes for gene: EMILIN1 were set to arterial tortuosity-bone fragility syndrome Review for gene: EMILIN1 was set to GREEN gene: EMILIN1 was marked as current diagnostic Added comment: Prenatal and neonatal fractures are a feature of the condition. Sources: Literature |
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