Activity
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5 actions
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| DDG2P v6.285 | PHF5A | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PHF5A was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PHF5A | Achchuthan Shanmugasundram edited their review of gene: PHF5A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for PHF5A-related neurodevelopmental disorder with congenital malformations are moderate, monoallelic_autosomal and undetermined (PMIDs: 33811463, 37422718). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03487.; Changed phenotypes to: PHF5A-related neurodevelopmental disorder with congenital malformations, MONDO:0100038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.13 | PHF5A | Arina Puzriakova Tag gene-checked tag was added to gene: PHF5A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | PHF5A | Achchuthan Shanmugasundram reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37422718, 33811463; Phenotypes: PHF5A-related neurodevelopmental disorder with congenital malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | PHF5A |
Achchuthan Shanmugasundram gene: PHF5A was added gene: PHF5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PHF5A were set to 37422718; 33811463 Phenotypes for gene: PHF5A were set to PHF5A-related neurodevelopmental disorder with congenital malformations Mode of pathogenicity for gene: PHF5A was set to Other |
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