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| Severe Paediatric Disorders v0.17 | LRP5 | Louise Daugherty Mode of inheritance for gene LRP5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | LRP5 | Louise Daugherty reviewed gene: LRP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | LRP5 | Louise Daugherty Publications for gene LRP5 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | LRP5 | Louise Daugherty Added phenotypes van Buchem disease, type 2, 607636; Osteosclerosis, 144750; Osteoporosis-pseudoglioma syndrome, 259770; Osteopetrosis, autosomal dominant 1, 607634; Exudative vitreoretinopathy 4, 601813; Polycystic liver disease 4 with or without kidney cysts, 617875; Hyperostosis, endosteal, 144750 for gene: LRP5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | LRP5 | Louise Daugherty Added phenotypes van Buchem disease, type 2, 607636; Osteosclerosis, 144750; Osteoporosis-pseudoglioma syndrome, 259770; Osteopetrosis, autosomal dominant 1, 607634; Exudative vitreoretinopathy 4, 601813; Polycystic liver disease 4 with or without kidney cysts, 617875; Hyperostosis, endosteal, 144750 for gene: LRP5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | LRP5 | Louise Daugherty Added phenotypes van Buchem disease, type 2, 607636; Osteosclerosis, 144750; Osteoporosis-pseudoglioma syndrome, 259770; Osteopetrosis, autosomal dominant 1, 607634; Exudative vitreoretinopathy 4, 601813; Polycystic liver disease 4 with or without kidney cysts, 617875; Hyperostosis, endosteal, 144750 for gene: LRP5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | LRP5 | Louise Daugherty Added phenotypes Osteoporosis-pseudoglioma syndrome, 259770; Exudative vitreoretinopathy 4, 601813; Polycystic liver disease 4 with or without kidney cysts, 617875; Hyperostosis, endosteal, 144750; Osteopetrosis, autosomal dominant 1, 607634; Osteosclerosis, 144750; van Buchem disease, type 2, 607636 for gene: LRP5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | LRP5 | Louise Daugherty Source Next Generation Children Project was added to LRP5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | LRP5 |
Louise Daugherty Source Expert Review Green was added to LRP5. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | LRP5 |
Louise Daugherty gene: LRP5 was added gene: LRP5 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: LRP5 was set to |
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