Activity
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6 actions
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| DDG2P v6.355 | SNAP25 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SNAP25 was changed from Other - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SNAP25 | Achchuthan Shanmugasundram edited their review of gene: SNAP25: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SNAP25-related epilepsy and intellectual disability are definitive, monoallelic_autosomal and loss of function (PMIDs: 29100083, 33299146). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02378.; Changed phenotypes to: OMIM:616330.0, SNAP25-related epilepsy and intellectual disability, Epilepsy and intellectual disability, MONDO:0014590 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SNAP25 | Achchuthan Shanmugasundram reviewed gene: SNAP25: Rating: GREEN; Mode of pathogenicity: ; Publications: 33299146, 29100083; Phenotypes: Epilepsy and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SNAP25 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SNAP25. Publications for gene: SNAP25 were updated from 29100083 to 33299146; 29100083 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | SNAP25 | Rebecca Foulger reviewed gene: SNAP25: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SNAP25 |
Rebecca Foulger gene: SNAP25 was added gene: SNAP25 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SNAP25 were set to 29100083 Phenotypes for gene: SNAP25 were set to Epilepsy and intellectual disability Mode of pathogenicity for gene: SNAP25 was set to Other - please provide details in the comments |
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