Activity
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6 actions
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| DDG2P v6.279 | OSGEP | Achchuthan Shanmugasundram Mode of pathogenicity for gene: OSGEP was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | OSGEP | Achchuthan Shanmugasundram edited their review of gene: OSGEP: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for OSGEP-related nephrotic syndrome with primary microcephaly are strong, biallelic_autosomal and undetermined (PMID:28805828). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02386.; Changed phenotypes to: Nephrotic syndrome with primary microcephaly, MONDO:0033007, OSGEP-related nephrotic syndrome with primary microcephaly, OMIM:617729.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | OSGEP | Achchuthan Shanmugasundram reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28805828; Phenotypes: Nephrotic syndrome with primary microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | OSGEP |
Achchuthan Shanmugasundram Source Expert Review Green was added to OSGEP. Mode of pathogenicity for gene OSGEP 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 | OSGEP | Rebecca Foulger reviewed gene: OSGEP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | OSGEP |
Rebecca Foulger gene: OSGEP was added gene: OSGEP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSGEP were set to 28805828 Phenotypes for gene: OSGEP were set to Nephrotic syndrome with primary microcephaly Mode of pathogenicity for gene: OSGEP was set to Other - please provide details in the comments |
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