| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Osteogenesis Imperfecta and Osteoporosis v0.59 | XYLT2 | Bryony Thompson Marked gene: XYLT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.59 | XYLT2 | Bryony Thompson Gene: xylt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.59 | XYLT2 | Bryony Thompson Classified gene: XYLT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.59 | XYLT2 | Bryony Thompson Gene: xylt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.58 | XYLT2 |
Bryony Thompson gene: XYLT2 was added gene: XYLT2 was added to Osteogenesis Imperfecta. Sources: Expert list Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT2 were set to 26027496; 26987875 Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome MIM#605822 Review for gene: XYLT2 was set to GREEN gene: XYLT2 was marked as current diagnostic Added comment: Generalised osteoporosis and recurrent fractures are a feature of the condition, which overlaps with the OI phenotype. >3 families reported. Sources: Expert list |
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