Activity
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6 actions
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| DDG2P v6.337 | SIX6 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SIX6 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SIX6 | Achchuthan Shanmugasundram edited their review of gene: SIX6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SIX6-related microphthalmia, isolated, with cataract are limited, monoallelic_autosomal and undetermined (PMID:15266624). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00986.; Changed phenotypes to: MICROPHTHALMIA, ISOLATED, WITH CATARACT 2, OMIM:212550, SIX6-related microphthalmia, isolated, with cataract, OMIM:212550.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIX6 | Achchuthan Shanmugasundram reviewed gene: SIX6: Rating: RED; Mode of pathogenicity: Other; Publications: 15266624; Phenotypes: MICROPHTHALMIA, ISOLATED, WITH CATARACT 2, OMIM:212550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SIX6 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SIX6 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SIX6 | Rebecca Foulger reviewed gene: SIX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SIX6 |
Rebecca Foulger gene: SIX6 was added gene: SIX6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SIX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIX6 were set to 15266624 Phenotypes for gene: SIX6 were set to MICROPHTHALMIA, ISOLATED, WITH CATARACT 2 212550 Mode of pathogenicity for gene: SIX6 was set to Other - please provide details in the comments |
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