Activity
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6 actions
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| DDG2P v6.298 | POT1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: POT1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | POT1 | Achchuthan Shanmugasundram edited their review of gene: POT1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for POT1-related Coats plus are limited, biallelic_autosomal and undetermined (PMID:27013236). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01756.; Changed phenotypes to: POT1-related Coats plus, MONDO:0957264, Coats Plus, OMIM:620368.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POT1 | Achchuthan Shanmugasundram reviewed gene: POT1: Rating: RED; Mode of pathogenicity: Other; Publications: 27013236; Phenotypes: Coats Plus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POT1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene POT1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POT1 | Rebecca Foulger reviewed gene: POT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | POT1 |
Rebecca Foulger gene: POT1 was added gene: POT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: POT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POT1 were set to 27013236 Phenotypes for gene: POT1 were set to Coats Plus Mode of pathogenicity for gene: POT1 was set to Other - please provide details in the comments |
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