Activity
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6 actions
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| DDG2P v6.391 | TRPV3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TRPV3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TRPV3 | Achchuthan Shanmugasundram edited their review of gene: TRPV3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TRPV3-related Olmsted syndrome are strong, monoallelic_autosomal and undetermined (PMID:22405088). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00500.; Changed phenotypes to: OLMSTED SYNDROME, OMIM:614594, TRPV3-related Olmsted syndrome, OMIM:614594.0, MONDO:0100296 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TRPV3 | Achchuthan Shanmugasundram reviewed gene: TRPV3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22405088; Phenotypes: OLMSTED SYNDROME, OMIM:614594; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TRPV3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TRPV3. Mode of pathogenicity for gene TRPV3 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 | TRPV3 | Rebecca Foulger reviewed gene: TRPV3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TRPV3 |
Rebecca Foulger gene: TRPV3 was added gene: TRPV3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPV3 were set to 22405088 Phenotypes for gene: TRPV3 were set to OLMSTED SYNDROME 614594 Mode of pathogenicity for gene: TRPV3 was set to Other - please provide details in the comments |
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