Activity

Filter

Cancel
Date Panel Item Activity
7 actions
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