Intestinal failure or congenital diarrhoea
Gene: EPCAMEnsemblGeneIds (GRCh38): ENSG00000119888
EnsemblGeneIds (GRCh37): ENSG00000119888
OMIM: 185535, Gene2Phenotype
EPCAM is in 13 panels
5 reviews
Eleanor Williams (Genomics England Curator)
This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Already green on the panelCreated: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Ivone Leong (Genomics England Curator)
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 24 Jan 2019, 4:35 p.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: EPCAM; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 8 Jan 2019, 10:52 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review and curated evidence.Created: 12 Oct 2016, 11:37 a.m.
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: At least two variants reported in Colorectal cancer, hereditary nonpolyposis, type 8 613244Created: 2 Sep 2016, 10:03 a.m.
Associated with phenotype in OMIM, not in G2P / DD. Nine variants reported as homozygotes or compound heterozygotesCreated: 2 Sep 2016, 10:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diarrhea 5, with tufting enteropathy, congenital 613217
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- NHS GMS
- Phenotypes
-
- Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217
- OMIM
- 185535
- Clinvar variants
- Variants in EPCAM
- Penetrance
- None
- Publications
- 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
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Adult solid tumours cancer susceptibility
- Intestinal failure or congenital diarrhoea
- Inherited ovarian cancer (without breast cancer)
- Inherited polyposis and early onset colorectal cancer - germline testing
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: EPCAM were changed from Diarrhea 5, with tufting enteropathy, congenital 613217 to Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: epcam has been classified as Green List (High Evidence).
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source Other was added to EPCAM. Mode of inheritance for gene EPCAM was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Diarrhea 5, with tufting enteropathy, congenital 613217 for gene: EPCAM Publications for gene EPCAM were changed from to 18572020; 21315192; 27302973
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to EPCAM. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: EPCAM was added gene: EPCAM was added to Intestinal failure. Sources: NHS GMS Mode of inheritance for gene: EPCAM was set to