| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Osteopetrosis v0.90 | LRP4 | Zornitza Stark Marked gene: LRP4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v0.90 | LRP4 | Zornitza Stark Gene: lrp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v0.90 | LRP4 | Zornitza Stark Classified gene: LRP4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v0.90 | LRP4 | Zornitza Stark Gene: lrp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteopetrosis v0.89 | LRP4 |
Zornitza Stark gene: LRP4 was added gene: LRP4 was added to Osteopetrosis. Sources: Literature Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRP4 were set to 32286743; 35052419; 40824295 Phenotypes for gene: LRP4 were set to Sclerosteosis 2, MIM# 614305 Review for gene: LRP4 was set to GREEN Added comment: PMIDs 32286743, 35052419 and 40824295 report 3 individuals from 3 unrelated families with autosomal recessive loss‑of‑function LRP4 variants causing sclerosteosis (high bone mass, cranial hyperostosis, facial dysmorphism, syndactyly, hearing loss). Functional data include a mouse Lrp4 knock‑in model recapitulating the high bone‑mass phenotype. Sources: Literature |
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