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DDG2P v3.12 SMARCA4 Achchuthan Shanmugasundram reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137775; Phenotypes: COFFIN SIRIS, OMIM:135900, RHABDOID TUMOR PREDISPOSITION SYNDROME 2, OMIM:613325; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.2 SMARCA4 Rebecca Foulger reviewed gene: SMARCA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 SMARCA4 Rebecca Foulger Added phenotypes RHABDOID TUMOR PREDISPOSITION SYNDROME 2 613325 for gene: SMARCA4
Publications for gene SMARCA4 were changed from to 20137775
DDG2P v0.1 SMARCA4 Rebecca Foulger gene: SMARCA4 was added
gene: SMARCA4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCA4 were set to COFFIN SIRIS 135900