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Inherited polyposis v1.7 EPCAM Arina Puzriakova Added comment: Comment on phenotypes: Biallelic variants in this gene are associated with Diarrhea 5, with tufting enteropathy, congenital (MIM# 613217)
Inherited polyposis v1.7 EPCAM Arina Puzriakova Phenotypes for gene: EPCAM were changed from Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer to Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244
Inherited polyposis v0.50 EPCAM Ivone Leong Added phenotypes Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer for gene: EPCAM
Inherited polyposis v0.49 EPCAM Ivone Leong commented on gene: EPCAM: Deletion of exons 8-9 is associated with polyposis/cancer and therefore testing would be for dosage analysis rather than sequencing. SNVs in EPCAM are not associated with polyposis/cancer.
Inherited polyposis v0.48 EPCAM Ivone Leong commented on gene: EPCAM
Inherited polyposis v0.21 EPCAM Ivone Leong Mode of inheritance for gene: EPCAM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited polyposis v0.6 EPCAM Ivone Leong Classified gene: EPCAM as Green List (high evidence)
Inherited polyposis v0.6 EPCAM Ivone Leong Gene: epcam has been classified as Green List (High Evidence).
Inherited polyposis v0.3 EPCAM Rachel Robinson reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Inherited polyposis v0.2 EPCAM Ivone Leong gene: EPCAM was added
gene: EPCAM was added to Inherited polyposis. Sources: NHS GMS
Mode of inheritance for gene: EPCAM was set to