Activity
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6 actions
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| DDG2P v6.407 | VAC14 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: VAC14 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | VAC14 | Achchuthan Shanmugasundram edited their review of gene: VAC14: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for VAC14-related progressive neurological disorder and regression of developmental milestones are limited, biallelic_autosomal and undetermined (PMID:27292112). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01753.; Changed phenotypes to: Progressive neurological disorder and regression of developmental milestones, VAC14-related progressive neurological disorder and regression of developmental milestones | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | VAC14 | Achchuthan Shanmugasundram reviewed gene: VAC14: Rating: RED; Mode of pathogenicity: Other; Publications: 27292112; Phenotypes: Progressive neurological disorder and regression of developmental milestones; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | VAC14 | Achchuthan Shanmugasundram Mode of pathogenicity for gene VAC14 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | VAC14 | Rebecca Foulger reviewed gene: VAC14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | VAC14 |
Rebecca Foulger gene: VAC14 was added gene: VAC14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VAC14 were set to 27292112 Phenotypes for gene: VAC14 were set to Progressive neurological disorder and regression of developmental milestones Mode of pathogenicity for gene: VAC14 was set to Other - please provide details in the comments |
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