Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: EPCAMEnsemblGeneIds (GRCh38): ENSG00000119888
EnsemblGeneIds (GRCh37): ENSG00000119888
OMIM: 185535, Gene2Phenotype
EPCAM is in 13 panels
2 reviews
Sophie Hambleton (Newcastle University)
This is an epithelial defect, not an immune problemCreated: 29 Jun 2018, 1:43 p.m.
Louise Daugherty (Genomics England Curator)
Comment on list classification: External expert review notes Red status due to no evident link to immunodeficiency, so I have kept this gene Red on this panel until further evidence has been published.Created: 3 Jul 2018, 10:13 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.Created: 20 Apr 2018, 12:25 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- GOSH PID v.8.0
- Phenotypes
-
- Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217
- OMIM
- 185535
- Clinvar variants
- Variants in EPCAM
- Penetrance
- None
- 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
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: EPCAM were changed from Diarrhea 5, with tufting enteropathy, congenital to Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: epcam has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: epcam has been classified as Red List (Low Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Expert Review Amber was added to EPCAM. Panel: Primary immunodeficiency disorders
Clear Sources
Louise Daugherty (Genomics England Curator)EPCAM Source: GOSH PID 20171148 was removed from gene: EPCAM
Added New Source
Louise Daugherty (Genomics England Curator)GOSH PID v.8.0 was added to EPCAM. Panel: Primary immunodeficiency disorders
Added New Source
Louise Daugherty (Genomics England Curator)EPCAM was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171148
Created
Louise Daugherty (Genomics England Curator)EPCAM was created by Louise Daugherty