Activity
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6 actions
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| DDG2P v6.408 | VAMP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: VAMP2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | VAMP2 | Achchuthan Shanmugasundram edited their review of gene: VAMP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for VAMP2-related intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:30929742). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02785.; Changed phenotypes to: INTELLECTUAL DISABILITY, OMIM:616579, MONDO:0032900, VAMP2-related intellectual disability, OMIM:618760.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VAMP2 | Achchuthan Shanmugasundram reviewed gene: VAMP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30929742; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | VAMP2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to VAMP2. Mode of pathogenicity for gene VAMP2 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 v1.130 | VAMP2 | Rebecca Foulger reviewed gene: VAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.129 | VAMP2 |
Rebecca Foulger gene: VAMP2 was added gene: VAMP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VAMP2 were set to 30929742 Phenotypes for gene: VAMP2 were set to INTELLECTUAL DISABILITY 616579 Mode of pathogenicity for gene: VAMP2 was set to Other - please provide details in the comments |
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