Activity
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6 actions
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| DDG2P v6.223 | KDM1A | Achchuthan Shanmugasundram Mode of pathogenicity for gene: KDM1A was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | KDM1A | Achchuthan Shanmugasundram edited their review of gene: KDM1A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KDM1A-related developmental delay and distinctive facial features are strong, monoallelic_autosomal and undetermined (PMIDs: 26656649, 29559475). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02308.; Changed publications to: 26656649, 29559475; Changed phenotypes to: MONDO:0014751, OMIM:616728.0, Developmental delay and distinctive facial features, KDM1A-related developmental delay and distinctive facial features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | KDM1A | Achchuthan Shanmugasundram reviewed gene: KDM1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29559475, 26656649; Phenotypes: Developmental delay and distinctive facial features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KDM1A |
Achchuthan Shanmugasundram Source Expert Review Green was added to KDM1A. Mode of pathogenicity for gene KDM1A was changed from Other - please provide details in the comments to Other Publications for gene: KDM1A were updated from 26656649 to 29559475; 26656649 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | KDM1A | Rebecca Foulger reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KDM1A |
Rebecca Foulger gene: KDM1A was added gene: KDM1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDM1A were set to 26656649 Phenotypes for gene: KDM1A were set to Developmental delay and distinctive facial features Mode of pathogenicity for gene: KDM1A was set to Other - please provide details in the comments |
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