Adult solid tumours cancer susceptibility
Gene: EPCAMEnsemblGeneIds (GRCh38): ENSG00000119888
EnsemblGeneIds (GRCh37): ENSG00000119888
OMIM: 185535, Gene2Phenotype
EPCAM is in 13 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5
Clare Turnbull (Queen Mary University London)
Tumor Suppressor: deletion onlyCreated: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lynch syndrome
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244
- OMIM
- 185535
- Clinvar variants
- Variants in EPCAM
- Penetrance
- Complete
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: EPCAM were changed from Lynch syndrome to Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to EPCAM.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumor Suppressor: deletion onl
Added New Source
Ellen McDonagh (Genomics England Curator)EPCAM was added to Adult solid tumourspanel. Source: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)EPCAM was added to Adult solid tumourspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)EPCAM was created by ellenmcdonagh