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DDG2P v3.12 NSD1 Achchuthan Shanmugasundram reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16222665, 12525543, 11896389; Phenotypes: SOTOS SYNDROME, OMIM:117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 NSD1 Achchuthan Shanmugasundram Publications for gene: NSD1 were updated from 12525543; 11896389; 16222665 to 16222665; 12525543; 11896389
DDG2P v0.2 NSD1 Rebecca Foulger reviewed gene: NSD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 NSD1 Rebecca Foulger Added phenotypes SOTOS SYNDROME 117550 for gene: NSD1
Publications for gene NSD1 were changed from to 12525543; 11896389; 16222665
DDG2P v0.1 NSD1 Rebecca Foulger Added phenotypes BECKWITH-WIEDEMANN SYNDROME 130650 for gene: NSD1
DDG2P v0.1 NSD1 Rebecca Foulger gene: NSD1 was added
gene: NSD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NSD1 were set to WEAVER SYNDROME 277590