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DDG2P v3.12 SPOP Achchuthan Shanmugasundram reviewed gene: SPOP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32109420; Phenotypes: SPOP-related Neurodevelopmental Disorder, gain of function, SPOP-related Neurodevelopmental Disorder, dominant negative; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 SPOP Achchuthan Shanmugasundram gene: SPOP was added
gene: SPOP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPOP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPOP were set to 32109420
Phenotypes for gene: SPOP were set to SPOP-related Neurodevelopmental Disorder, gain of function; SPOP-related Neurodevelopmental Disorder, dominant negative
Mode of pathogenicity for gene: SPOP was set to Other