Activity
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6 actions
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| DDG2P v6.370 | SYT1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SYT1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SYT1 | Achchuthan Shanmugasundram edited their review of gene: SYT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SYT1-related intellectual disability are strong, monoallelic_autosomal and undetermined (PMIDs: 25705886, 30107533). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00305.; Changed phenotypes to: INTELLECTUAL DISABILITY, OMIM:616579, OMIM:618218.0, SYT1-related intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SYT1 | Achchuthan Shanmugasundram reviewed gene: SYT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30107533, 25705886; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SYT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SYT1. Mode of pathogenicity for gene SYT1 was changed from Other - please provide details in the comments to Other Publications for gene: SYT1 were updated from 25705886 to 30107533; 25705886 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v0.2 | SYT1 | Rebecca Foulger reviewed gene: SYT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SYT1 |
Rebecca Foulger gene: SYT1 was added gene: SYT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SYT1 were set to 25705886 Phenotypes for gene: SYT1 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: SYT1 was set to Other - please provide details in the comments |
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