Activity
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| DDG2P v6.52 | AP2S1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: AP2S1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | AP2S1 | Achchuthan Shanmugasundram edited their review of gene: AP2S1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AP2S1-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:33057194). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02867.; Changed phenotypes to: AP2S1-related developmental disorder, MONDO:0700092, AP2S1-related developmental disorder (monoallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AP2S1 | Achchuthan Shanmugasundram reviewed gene: AP2S1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33057194; Phenotypes: AP2S1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | AP2S1 |
Achchuthan Shanmugasundram gene: AP2S1 was added gene: AP2S1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AP2S1 were set to 33057194 Phenotypes for gene: AP2S1 were set to AP2S1-related developmental disorder (monoallelic) Mode of pathogenicity for gene: AP2S1 was set to Other |
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