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Details of Gene

Item Details
Gene/Locus name

EPCAM (also called Ly74,TROP1,GA733-2,EGP34,EGP40,EGP-2,KSA,CD326,Ep-CAM,HEA125,KS1/4,MK-1,MH99,MOC31,323/A3,17-1A,TACST-1,CO-17A,ESA)

Long Name

epithelial cell adhesion molecule (OMIM 185535)

Associated Disorders

OMIM 613217 : Diarrhea 5, with tufting enteropathy, congenital
OMIM 613244 : Colorectal cancer, hereditary nonpolyposis, type 8

Interpretation / Comment

Laboratory methods do not necessarily identify all of the clinically significant variants in a gene. The failure to identify a variant does not necessarily mean that the gene is normal. Variants in a gene may cause more than one disease, and the identification of a clinically significant variant does not necessarily indicate the specific disease that the patient or relatives may be at risk of developing. Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene does not necessarily alter the clinical diagnosis or risk for relatives.

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