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DDG2P v3.12 SPEN Achchuthan Shanmugasundram reviewed gene: SPEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 33596411, 33057194; Phenotypes: SPEN-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 SPEN Achchuthan Shanmugasundram gene: SPEN was added
gene: SPEN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPEN were set to 33596411; 33057194
Phenotypes for gene: SPEN were set to SPEN-related developmental disorder (monoallelic)