| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.13 | NLRP5 | Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: NLRP5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NLRP5 | Achchuthan Shanmugasundram commented on gene: NLRP5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LRP5 | Achchuthan Shanmugasundram reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 15981244, 14727154, 11719191, 9056564, 15024691, 20034086, 12579474, 11741193, 9831343; Phenotypes: VITREORETINOPATHY EXUDATIVE TYPE 4, OMIM:601813, ENDOSTEAL HYPEROSTOSIS WORTH TYPE, OMIM:144750, HIGH BONE MASS TRAIT, OMIM:601884, OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1, OMIM:607634, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OMIM:259770; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NLRP5 |
Achchuthan Shanmugasundram Source Expert Review Removed was added to NLRP5. Rating Changed from Red List (low evidence) to No List (delete) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LRP5 | Achchuthan Shanmugasundram Publications for gene: LRP5 were updated from 20034086; 11719191 to 15981244; 14727154; 11719191; 9056564; 15024691; 20034086; 12579474; 11741193; 9831343 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.56 | LRP5 | Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P lists MOI as monoallelic for ENDOSTEAL HYPEROSTOSIS WORTH TYPE; monoallelic for HIGH BONE MASS TRAIT; monoallelic for OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1; biallelic for OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; monoallelic for VITREORETINOPATHY EXUDATIVE TYPE 4. All diseases have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.56 | LRP5 | Rebecca Foulger Mode of inheritance for gene: LRP5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NLRP5 | Rebecca Foulger reviewed gene: NLRP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | LRP5 | Rebecca Foulger reviewed gene: LRP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NLRP5 |
Rebecca Foulger gene: NLRP5 was added gene: NLRP5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NLRP5 was set to Publications for gene: NLRP5 were set to 26323243 Phenotypes for gene: NLRP5 were set to Multilocus imprinting disorder |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LRP5 |
Rebecca Foulger Added phenotypes OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME 259770 for gene: LRP5 Publications for gene LRP5 were changed from 9056564; 9831343; 15024691; 15981244 to 20034086; 11719191 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LRP5 |
Rebecca Foulger Added phenotypes VITREORETINOPATHY EXUDATIVE TYPE 4 601813 for gene: LRP5 Publications for gene LRP5 were changed from 12579474 to 9056564; 9831343; 15024691; 15981244 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LRP5 | Rebecca Foulger Added phenotypes ENDOSTEAL HYPEROSTOSIS WORTH TYPE 144750 for gene: LRP5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LRP5 |
Rebecca Foulger Added phenotypes OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1 607634 for gene: LRP5 Publications for gene LRP5 were changed from 11741193; 14727154 to 12579474 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LRP5 |
Rebecca Foulger gene: LRP5 was added gene: LRP5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LRP5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LRP5 were set to 11741193; 14727154 Phenotypes for gene: LRP5 were set to HIGH BONE MASS TRAIT 601884 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||