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Fetal anomalies v0.2772 | LRP5 | Zornitza Stark Marked gene: LRP5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2772 | LRP5 | Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2772 | LRP5 | Zornitza Stark Phenotypes for gene: LRP5 were changed from HIGH BONE MASS TRAIT; ENDOSTEAL HYPEROSTOSIS WORTH TYPE; VITREORETINOPATHY EXUDATIVE TYPE 4; OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1; OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME to Osteoporosis-pseudoglioma syndrome, MIM# 259770; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2771 | LRP5 | Zornitza Stark Mode of inheritance for gene: LRP5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2770 | LRP5 | Zornitza Stark changed review comment from: ID generally normal in all of these conditions.; to: Variants in this gene are associated with multiple disorders. Some have congenital anomalies as a feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2770 | LRP5 | Zornitza Stark edited their review of gene: LRP5: Changed rating: GREEN; Changed phenotypes: Osteoporosis-pseudoglioma syndrome, MIM# 259770, Polycystic liver disease 4 with or without kidney cysts, MIM# 617875 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | LRP5 |
Zornitza Stark gene: LRP5 was added gene: LRP5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LRP5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRP5 were set to HIGH BONE MASS TRAIT; ENDOSTEAL HYPEROSTOSIS WORTH TYPE; VITREORETINOPATHY EXUDATIVE TYPE 4; OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1; OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME |