| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3841 | LRP6 | Zornitza Stark Phenotypes for gene: LRP6 were changed from Tooth agenesis, selective, 7, MIM# 616724; Exudative vitreoretinopathy 8, MIM# 621268 to Osteopetrosis, autosomal dominant 4, MIM# 621449; Tooth agenesis, selective, 7, MIM# 616724; Exudative vitreoretinopathy 8, MIM# 621268 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3840 | LRP6 | Zornitza Stark Publications for gene: LRP6 were set to 26387593; 34896607 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3839 | LRP6 | Zornitza Stark changed review comment from: 8 individuals from 3 unrelated families reported, all with missense variants. Insufficient segregation evidence in two of the families. Supportive mouse model.; to: Association with vitreoretinopathy: 8 individuals from 3 unrelated families reported, all with missense variants. Insufficient segregation evidence in two of the families. Supportive mouse model. AMBER for this association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3839 | LRP6 | Zornitza Stark edited their review of gene: LRP6: Added comment: Association with osteopetrosis: 5 families reported with a dentoosseous disorder characterised by enhanced osteoblast-mediated bone formation resulting in generalized osteosclerosis and endosteal hyperostosis. Other features include missing teeth, torus palatinus, and intraoral exostoses that sometimes surround teeth. GREEN for this association.; Changed rating: GREEN; Changed publications: 34896607, 31085352, 32730923, 37065631, 38385987; Changed phenotypes: Exudative vitreoretinopathy 8, MIM# 621268, Osteopetrosis, autosomal dominant 4, MIM# 621449 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2724 | LRP6 | Zornitza Stark Phenotypes for gene: LRP6 were changed from Tooth agenesis, selective, 7, MIM# 616724 to Tooth agenesis, selective, 7, MIM# 616724; Exudative vitreoretinopathy 8, MIM# 621268 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2723 | LRP6 | Zornitza Stark Publications for gene: LRP6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2722 | LRP6 | Zornitza Stark reviewed gene: LRP6: Rating: AMBER; Mode of pathogenicity: None; Publications: 34896607; Phenotypes: Exudative vitreoretinopathy 8, MIM# 621268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14660 | LRP6 | Krithika Murali reviewed gene: LRP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26387593; Phenotypes: Tooth agenesis, selective, 7 - MIM#616724; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13975 | LRP6 | Alison Yeung Marked gene: LRP6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13975 | LRP6 | Alison Yeung Gene: lrp6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13975 | LRP6 | Alison Yeung Phenotypes for gene: LRP6 were changed from to Tooth agenesis, selective, 7, MIM# 616724 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13974 | LRP6 | Alison Yeung Mode of inheritance for gene: LRP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | LRP6 |
Zornitza Stark gene: LRP6 was added gene: LRP6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LRP6 was set to Unknown |
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