Inherited polyposis

Gene: EPCAM

Green List (high evidence)

EPCAM (epithelial cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000119888
EnsemblGeneIds (GRCh37): ENSG00000119888
OMIM: 185535, Gene2Phenotype
EPCAM is in 12 panels

7 reviews

Ivone Leong (Genomics England Curator)

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.
Created: 1 Aug 2019, 4:03 p.m. | Last Modified: 1 Aug 2019, 4:03 p.m.
Panel Version: 0.49
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jul 2019, 12:34 p.m. | Last Modified: 31 Jul 2019, 12:34 p.m.
Panel Version: 0.48

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Tumor Suppressor: deletion only
Created: 5 Jul 2017, 12:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Lynch syndrome

Ellen McDonagh (Genomics England Curator)

Added 'structural variant' tag.
Created: 11 May 2017, 10:19 a.m.

Ellen Thomas (Genomics England Curator)

Comment when marking as ready: Consider adding to panel once SVs are being analysed.
Created: 10 May 2016, 8:52 a.m.
Comment on mode of pathogenicity: A specific structural variant in this gene causes Lynch syndrome by an effect on the MSH2 promoter. Single nucleotide variants have no evidence for association with colon cancer.
Created: 10 May 2016, 8:51 a.m.

Ian Tomlinson (University of Oxford)

Red List (low evidence)

Would not have this separate from MSH2, as EPCAM is probably a bystander
Created: 8 Dec 2015, 3:05 p.m.

Mode of inheritance
Unknown

Ian Frayling (Cardiff University)

Green List (high evidence)

Mutations listed at http://chromium.lovd.nl/LOVD2/colon_cancer/home.php?select_db=EPCAM and also on ClinVar. Biallelic EPCAM mutations affecting MSH2 expression theoretically will produce Constitutional Mismatch Repair Disorder (CMMR-D)
Created: 8 Dec 2015, 2:18 p.m.
http://chromium.lovd.nl/LOVD2/colon_cancer/home.php?select_db=EPCAM
Created: 8 Dec 2015, 2:16 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

History Filter Activity

2 Aug 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer for gene: EPCAM

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: EPCAM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: epcam has been classified as Green List (High Evidence).

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: EPCAM was added gene: EPCAM was added to Inherited polyposis. Sources: NHS GMS Mode of inheritance for gene: EPCAM was set to