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| BabyScreen+ newborn screening v0.1710 | LRP5 |
Zornitza Stark Tag treatable tag was added to gene: LRP5. Tag skeletal tag was added to gene: LRP5. |
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| BabyScreen+ newborn screening v0.664 | LRP5 | Zornitza Stark Tag for review was removed from gene: LRP5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.664 | LRP5 |
Zornitza Stark changed review comment from: Gene is associated with multiple phenotypes. Bisphosphanate is used to treat osteoporosis. Onset of bone fragility is in childhood. Non-genetic confirmatory testing: skeletal survey, but uncertain at what stage abnormalities would appear. For review.; to: Gene is associated with multiple phenotypes. Bisphosphanate is used to treat osteoporosis. Onset of bone fragility is in childhood. Non-genetic confirmatory testing: skeletal survey, but uncertain at what stage abnormalities would appear. For review: only include bi-allelic disease. |
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| BabyScreen+ newborn screening v0.243 | LRP5 | Zornitza Stark Marked gene: LRP5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.243 | LRP5 | Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.243 | LRP5 | Zornitza Stark Phenotypes for gene: LRP5 were changed from Osteopetrosis, autosomal dominant; Osteoporosis-pseudoglioma syndrome to Osteoporosis-pseudoglioma syndrome, MIM# 259770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.242 | LRP5 | Zornitza Stark Mode of inheritance for gene: LRP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.241 | LRP5 | Zornitza Stark Tag for review tag was added to gene: LRP5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.241 | LRP5 | Zornitza Stark reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteoporosis-pseudoglioma syndrome, MIM# 259770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.205 | LRP5 | David Amor edited their review of gene: LRP5: Changed phenotypes: osteoporosis-pseudoglioma syndrome, cause exudative vireoretinopathy, osteopetrosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.203 | LRP5 | David Amor reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | LRP5 |
Zornitza Stark gene: LRP5 was added gene: LRP5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LRP5 were set to Osteopetrosis, autosomal dominant; Osteoporosis-pseudoglioma syndrome |
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