Activity
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6 actions
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| DDG2P v6.361 | SPARC | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SPARC was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SPARC | Achchuthan Shanmugasundram edited their review of gene: SPARC: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SPARC-related osteogenesis imperfecta are strong, biallelic_autosomal and undetermined (PMID:26027498). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01673.; Changed phenotypes to: SPARC-related osteogenesis imperfecta, OSTEOGENESIS IMPERFECTA, TYPE XVII, OMIM:616507, OMIM:616507.0, MONDO:0014672 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SPARC | Achchuthan Shanmugasundram reviewed gene: SPARC: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26027498; Phenotypes: OSTEOGENESIS IMPERFECTA, TYPE XVII, OMIM:616507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SPARC |
Achchuthan Shanmugasundram Source Expert Review Green was added to SPARC. Mode of pathogenicity for gene SPARC was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | SPARC | Rebecca Foulger reviewed gene: SPARC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SPARC |
Rebecca Foulger gene: SPARC was added gene: SPARC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPARC were set to 26027498 Phenotypes for gene: SPARC were set to OSTEOGENESIS IMPERFECTA, TYPE XVII 616507 Mode of pathogenicity for gene: SPARC was set to Other - please provide details in the comments |
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