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DDG2P v3.12 SHANK3 Achchuthan Shanmugasundram reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17173049, 22892527; Phenotypes: PHELAN-MCDERMID SYNDROME, OMIM:606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 SHANK3 Achchuthan Shanmugasundram Source Expert Review Green was added to SHANK3.
Publications for gene: SHANK3 were updated from 22892527; 17173049 to 17173049; 22892527
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v0.2 SHANK3 Rebecca Foulger reviewed gene: SHANK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 SHANK3 Rebecca Foulger gene: SHANK3 was added
gene: SHANK3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SHANK3 were set to 22892527; 17173049
Phenotypes for gene: SHANK3 were set to PHELAN-MCDERMID SYNDROME 606232