This Panel is marked as Retired
Multiple Tumours
Gene: EPCAM
EPCAM (epithelial cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000119888
EnsemblGeneIds (GRCh37): ENSG00000119888
OMIM: 185535, Gene2Phenotype
EPCAM is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000119888
EnsemblGeneIds (GRCh37): ENSG00000119888
OMIM: 185535, Gene2Phenotype
EPCAM is in 13 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on mode of pathogenicity: Deletion - MLPA analysis.Created: 18 Apr 2017, 2:41 p.m.
Comment on list classification: On the UKGTN Hereditary Cancer and Fanconi Anaemia 94 gene panel for Colorectal cancer, hereditary nonpolyposis, type 8.Created: 18 Apr 2017, 2:39 p.m.
Information from TruSight panel: partial gene deletionCreated: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Lynch Syndrome
- Hereditary Non-Polyposis Colon Cancer (HNPCC)
- Muir-Torre SyndromeColorectal cancer
- Endometrial cancer
- Ovarian cancer
- OMIM
- 185535
- Clinvar variants
- Variants in EPCAM
- Penetrance
- Complete
- Publications
-
- Kuiper et al. Recurrence and variability of germline EPCAM deletions in Lynch syndrome.Hum Mutat. 32(4):407-14 (2011)
- . Ligtenberg et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3-prime exons of TACSTD1. Nat Genet. 41(1):112-7 (2009)
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Inherited MMR deficiency (Lynch syndrome)
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Adult solid tumours for rare disease
- Familial breast cancer
- GI tract tumours
- Adult solid tumours cancer susceptibility
- COVID-19 research
- Intestinal failure or congenital diarrhoea
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited ovarian cancer (without breast cancer)
- DDG2P
- Inherited polyposis and early onset colorectal cancer - germline testing
- Gastrointestinal epithelial barrier disorders
History Filter Activity
18 Apr 2017, Gel status: 2
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for EPCAM was changed to Other - please provide details in the comments
18 Apr 2017, Gel status: 2
Set publications
Ellen McDonagh (Genomics England Curator)Publications for EPCAM were set to Kuiper et al. Recurrence and variability of germline EPCAM deletions in Lynch syndrome.Hum Mutat. 32(4):407-14 (2011);. Ligtenberg et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3-prime exons of TACSTD1. Nat Genet. 41(1):112-7 (2009)
18 Apr 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)EPCAM was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)EPCAM was created by ellenmcdonagh