Activity
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6 actions
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| DDG2P v6.136 | DDX6 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDX6 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DDX6 | Achchuthan Shanmugasundram edited their review of gene: DDX6: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DDX6-related intellectual disability are strong, monoallelic_autosomal and undetermined (PMID:31422817). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02445.; Changed phenotypes to: MONDO:0032851, DDX6-related intellectual disability, INTELLECTUAL DISABILITY, OMIM:616579, OMIM:618653.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDX6 | Achchuthan Shanmugasundram reviewed gene: DDX6: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31422817; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DDX6 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DDX6. Mode of pathogenicity for gene DDX6 was changed from Other - please provide details in the comments to Other Publications for gene: DDX6 were updated from to 31422817 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | DDX6 | Rebecca Foulger reviewed gene: DDX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DDX6 |
Rebecca Foulger gene: DDX6 was added gene: DDX6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DDX6 were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: DDX6 was set to Other - please provide details in the comments |
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