Activity
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6 actions
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| DDG2P v6.356 | SNIP1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SNIP1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SNIP1 | Achchuthan Shanmugasundram edited their review of gene: SNIP1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SNIP1-related symptomatic epilepsy and skull dysplasia are limited, biallelic_autosomal and undetermined (PMID:22279524). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01312.; Changed phenotypes to: SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA, OMIM:614501, SNIP1-related symptomatic epilepsy and skull dysplasia, OMIM:614501.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SNIP1 | Achchuthan Shanmugasundram reviewed gene: SNIP1: Rating: RED; Mode of pathogenicity: Other; Publications: 22279524; Phenotypes: SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA, OMIM:614501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SNIP1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SNIP1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SNIP1 | Rebecca Foulger reviewed gene: SNIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SNIP1 |
Rebecca Foulger gene: SNIP1 was added gene: SNIP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SNIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNIP1 were set to 22279524 Phenotypes for gene: SNIP1 were set to SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA 614501 Mode of pathogenicity for gene: SNIP1 was set to Other - please provide details in the comments |
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