| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Osteogenesis Imperfecta and Osteoporosis v0.130 | ANO5 | Zornitza Stark Marked gene: ANO5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.130 | ANO5 | Zornitza Stark Gene: ano5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.61 | ANO5 | Bryony Thompson Classified gene: ANO5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.61 | ANO5 | Bryony Thompson Gene: ano5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.60 | ANO5 |
Bryony Thompson gene: ANO5 was added gene: ANO5 was added to Osteogenesis Imperfecta. Sources: Expert list Mode of inheritance for gene: ANO5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANO5 were set to 30712070; 15124103; 30641283; 29175271 Phenotypes for gene: ANO5 were set to Gnathodiaphyseal dysplasia MIM#166260 Review for gene: ANO5 was set to GREEN gene: ANO5 was marked as current diagnostic Added comment: Bone fragility is a feature of the condition, which is an overlapping feature with OI and could be a differential diagnosis. >3 families/probands and a null mouse model reported. Sources: Expert list |
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