Activity
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10 actions
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| DDG2P v6.281 | PACS2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PACS2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PACS2 | Achchuthan Shanmugasundram edited their review of gene: PACS2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PACS2-related neurodevelopmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 28867141, 30290155). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02368.; Changed publications to: 30290155, 28867141; Changed phenotypes to: Unspecified Neurodevelopmental Disorder, PACS2-related neurodevelopmental disorder, OMIM:618067.0, MONDO:0054845 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PACS2 | Achchuthan Shanmugasundram reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28867141, 30290155; Phenotypes: Unspecified Neurodevelopmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PACS2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PACS2. Mode of pathogenicity for gene PACS2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.28 | PACS2 | Rebecca Foulger Publications for gene: PACS2 were set to 28867141 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.27 | PACS2 | Rebecca Foulger Classified gene: PACS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.27 | PACS2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect new DDG2P Disease confidence rating of probable for 'Unspecified Neurodevelopmental Disorder (the previous rating was 'possible'). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.27 | PACS2 | Rebecca Foulger Gene: pacs2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PACS2 | Rebecca Foulger reviewed gene: PACS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PACS2 |
Rebecca Foulger gene: PACS2 was added gene: PACS2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PACS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PACS2 were set to 28867141 Phenotypes for gene: PACS2 were set to Unspecified Neurodevelopmental Disorder Mode of pathogenicity for gene: PACS2 was set to Other - please provide details in the comments |
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