Activity
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8 actions
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| DDG2P v6.338 | SIX5 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SIX5 was changed from None to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.337 | SIX5 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SIX5 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SIX5 | Achchuthan Shanmugasundram edited their review of gene: SIX5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SIX5-related branchiootorenal syndrome are definitive, monoallelic_autosomal and undetermined (PMID:17357085). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00803.; Changed phenotypes to: BRANCHIOOTORENAL SYNDROME TYPE 2, OMIM:610896, OMIM:610896.0, SIX5-related branchiootorenal syndrome, MONDO:0012575 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.8 | SIX5 | Eleanor Williams commented on gene: SIX5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SIX5 | Achchuthan Shanmugasundram reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17357085; Phenotypes: BRANCHIOOTORENAL SYNDROME TYPE 2, OMIM:610896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SIX5 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SIX5 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SIX5 | Rebecca Foulger reviewed gene: SIX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SIX5 |
Rebecca Foulger gene: SIX5 was added gene: SIX5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIX5 were set to 17357085 Phenotypes for gene: SIX5 were set to BRANCHIOOTORENAL SYNDROME TYPE 2 610896 Mode of pathogenicity for gene: SIX5 was set to Other - please provide details in the comments |
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