Activity
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6 actions
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| DDG2P v6.352 | SMARCE1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SMARCE1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SMARCE1 | Achchuthan Shanmugasundram edited their review of gene: SMARCE1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SMARCE1-related Coffin Siris are strong, monoallelic_autosomal and undetermined (PMID:22426308). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00174.; Changed phenotypes to: COFFIN SIRIS, OMIM:135900, MONDO:0014838, SMARCE1-related Coffin Siris, OMIM:616938.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SMARCE1 | Achchuthan Shanmugasundram reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22426308; Phenotypes: COFFIN SIRIS, OMIM:135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SMARCE1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCE1. Mode of pathogenicity for gene SMARCE1 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 | SMARCE1 | Rebecca Foulger reviewed gene: SMARCE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SMARCE1 |
Rebecca Foulger gene: SMARCE1 was added gene: SMARCE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCE1 were set to 22426308 Phenotypes for gene: SMARCE1 were set to COFFIN SIRIS 135900 Mode of pathogenicity for gene: SMARCE1 was set to Other - please provide details in the comments |
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