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Common deletion and duplication syndromes v0.131 ISCA-37433-Loss Elena Savva Classified Region: ISCA-37433-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.131 ISCA-37433-Loss Elena Savva Region: isca-37433-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.130 ISCA-37433-Loss Elena Savva Region: ISCA-37433-Loss was added
Region: ISCA-37433-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400
Review for Region: ISCA-37433-Loss was set to GREEN
Added comment: Established CNV
Sources: Expert list