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DDG2P v3.12 NOTCH2 Achchuthan Shanmugasundram reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21378985, 21378989, 21712856; Phenotypes: HAJDU-CHENEY SYNDROME, OMIM:102500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 NOTCH2 Achchuthan Shanmugasundram Mode of pathogenicity for gene NOTCH2 was changed from Other - please provide details in the comments to Other
Publications for gene: NOTCH2 were updated from 21712856; 21378989; 21378985 to 21378985; 21378989; 21712856
DDG2P v0.2 NOTCH2 Rebecca Foulger reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 NOTCH2 Rebecca Foulger gene: NOTCH2 was added
gene: NOTCH2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOTCH2 were set to 21712856; 21378989; 21378985
Phenotypes for gene: NOTCH2 were set to HAJDU-CHENEY SYNDROME 102500
Mode of pathogenicity for gene: NOTCH2 was set to Other - please provide details in the comments