Gastrointestinal epithelial barrier disorders
Gene: EPCAMEnsemblGeneIds (GRCh38): ENSG00000119888
EnsemblGeneIds (GRCh37): ENSG00000119888
OMIM: 185535, Gene2Phenotype
EPCAM is in 13 panels
4 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: Evidence from the literature and clinical opinion suggest that there is a strong link between variants in EPCAM and presentation of gastrointestinal epithelial barrier disorder phenotypes, including congenital tufting enteropathy (presenting often with failure to thrive).Created: 22 Aug 2018, 10:47 a.m.
Comment when marking as ready: This gene is being marked as ready, having been reviewed internally by the clinical team, by the curation team and by the expert reviewer. 25/07/2018Created: 25 Jul 2018, 4:22 p.m.
Sarah Leigh (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diarrhea 5, with tufting enteropathy, congenital 613217
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)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217
- OMIM
- 185535
- Clinvar variants
- Variants in EPCAM
- Penetrance
- Complete
- 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
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: EPCAM were changed from Diarrhea 5, with tufting enteropathy, congenital 613217; Diarrhea 5, with tufting enteropathy, congenital; Colorectal cancer, hereditary nonpolyposis, type 8, 613244; Diarrhea 5, with tufting enteropathy, congenital, 613217 to Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217
Set publications
Olivia Niblock (Genomics England Curator)Publications for gene: EPCAM were set to 24142340; 20034091; 19820410; 18572020
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: epcam has been classified as Green List (High Evidence).
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: epcam has been classified as Amber List (Moderate Evidence).
Set penetrance
Olivia Niblock (Genomics England Curator)Phenotypes for gene EPCAM were set to Diarrhea 5, with tufting enteropathy, congenital 613217, Diarrhea 5, with tufting enteropathy, congenital, Colorectal cancer, hereditary nonpolyposis, type 8, 613244, Diarrhea 5, with tufting enteropathy, congenital, 613217
Added New Source
Olivia Niblock (Genomics England Curator)Expert list was added to EPCAM. Panel: Gastrointestinal epithelial barrier disorders
Added New Source, Set penetrance
Olivia Niblock (Genomics England Curator)Illumina TruGenome Clinical Sequencing Services was added to EPCAM. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene EPCAM were set to Diarrhea 5, with tufting enteropathy, congenital 613217, Diarrhea 5, with tufting enteropathy, congenital, Colorectal cancer, hereditary nonpolyposis, type 8, 613244, Diarrhea 5, with tufting enteropathy, congenital, 613217, Lynch Syndrome
Set penetrance
Olivia Niblock (Genomics England Curator)Phenotypes for gene EPCAM were set to Diarrhea 5, with tufting enteropathy, congenital 613217, Diarrhea 5, with tufting enteropathy, congenital, Colorectal cancer, hereditary nonpolyposis, type 8, 613244, Diarrhea 5, with tufting enteropathy, congenital, 613217
Set penetrance
Olivia Niblock (Genomics England Curator)Phenotypes for gene EPCAM were set to Diarrhea 5, with tufting enteropathy, congenital 613217, Diarrhea 5, with tufting enteropathy, congenital
Created
Sarah Leigh (Genomics England Curator)EPCAM was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)EPCAM was added to Gastrointestinal epithelial barrier disorderspanel. Sources: Eligibility statement prior genetic testing,Radboud University Medical Center, Nijmegen