Activity
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6 actions
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| DDG2P v6.381 | TLL1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TLL1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TLL1 | Achchuthan Shanmugasundram edited their review of gene: TLL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TLL1-related atrial septal defect are limited, monoallelic_autosomal and undetermined (PMID:18830233). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00416.; Changed phenotypes to: OMIM:613087.0, TLL1-related atrial septal defect, ATRIAL SEPTAL DEFECT TYPE 6, OMIM:613087, MONDO:0013123 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TLL1 | Achchuthan Shanmugasundram reviewed gene: TLL1: Rating: RED; Mode of pathogenicity: Other; Publications: 18830233; Phenotypes: ATRIAL SEPTAL DEFECT TYPE 6, OMIM:613087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TLL1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene TLL1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TLL1 | Rebecca Foulger reviewed gene: TLL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TLL1 |
Rebecca Foulger gene: TLL1 was added gene: TLL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TLL1 were set to 18830233 Phenotypes for gene: TLL1 were set to ATRIAL SEPTAL DEFECT TYPE 6 613087 Mode of pathogenicity for gene: TLL1 was set to Other - please provide details in the comments |
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