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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