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DDG2P v3.12 EMG1 Achchuthan Shanmugasundram reviewed gene: EMG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26676230, 27798105, 19463982, 25708872; Phenotypes: Bowen-Conradi syndrome, OMIM:211180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 EMG1 Achchuthan Shanmugasundram Source Expert Review Green was added to EMG1.
Mode of pathogenicity for gene EMG1 was changed from Other - please provide details in the comments to Other
Publications for gene: EMG1 were updated from 26676230; 19463982; 25708872; 27798105 to 26676230; 27798105; 19463982; 25708872
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v0.2 EMG1 Rebecca Foulger reviewed gene: EMG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 EMG1 Rebecca Foulger gene: EMG1 was added
gene: EMG1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMG1 were set to 26676230; 19463982; 25708872; 27798105
Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome
Mode of pathogenicity for gene: EMG1 was set to Other - please provide details in the comments