Activity
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11 actions
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| DDG2P v6.353 | SMC3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMC3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.308 | PSMC3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PSMC3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PSMC3 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: PSMC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SMC3 | Achchuthan Shanmugasundram edited their review of gene: SMC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SMC3-related Cornelia de Lange syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 17273969, 20358602, 25125236, 25655089). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00659.; Changed publications to: 17273969, 25655089, 20358602, 25125236; Changed phenotypes to: OMIM:610759.0, SMC3-related Cornelia de Lange syndrome, CORNELIA DE LANGE SYNDROME TYPE 3, OMIM:610759, MONDO:0012555 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PSMC3 | Achchuthan Shanmugasundram edited their review of gene: PSMC3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PSMC3-related neurodevelopmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:37256937). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03496.; Changed phenotypes to: MONDO:0700092, PSMC3-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | PSMC3 | Achchuthan Shanmugasundram reviewed gene: PSMC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37256937; Phenotypes: PSMC3-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | PSMC3 |
Achchuthan Shanmugasundram gene: PSMC3 was added gene: PSMC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PSMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSMC3 were set to 37256937 Phenotypes for gene: PSMC3 were set to PSMC3-related neurodevelopmental disorder Mode of pathogenicity for gene: PSMC3 was set to Other |
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| DDG2P v3.12 | SMC3 | Achchuthan Shanmugasundram reviewed gene: SMC3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17273969, 25125236, 25655089, 20358602; Phenotypes: CORNELIA DE LANGE SYNDROME TYPE 3, OMIM:610759; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SMC3 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene SMC3 was changed from Other - please provide details in the comments to Other Publications for gene: SMC3 were updated from 25125236; 25655089 to 17273969; 25125236; 25655089; 20358602 |
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| DDG2P v0.2 | SMC3 | Rebecca Foulger reviewed gene: SMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SMC3 |
Rebecca Foulger gene: SMC3 was added gene: SMC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMC3 were set to 25125236; 25655089 Phenotypes for gene: SMC3 were set to CORNELIA DE LANGE SYNDROME TYPE 3 610759 Mode of pathogenicity for gene: SMC3 was set to Other - please provide details in the comments |
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