Gastrointestinal epithelial barrier disorders

Gene: EPCAM

Green List (high evidence)

EPCAM (epithelial cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000119888
EnsemblGeneIds (GRCh37): ENSG00000119888
OMIM: 185535, Gene2Phenotype
EPCAM is in 12 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. 25/07/2018
Created: 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)

Green List (high evidence)

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 613217
  • Diarrhea 5, with tufting enteropathy, congenital
  • Colorectal cancer, hereditary nonpolyposis, type 8, 613244
  • Diarrhea 5, with tufting enteropathy, congenital, 613217
OMIM
185535
Clinvar variants
Variants in EPCAM
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Aug 2018, Gel status: 3

Set publications

Olivia Niblock (Genomics England Curator)

Publications for gene: EPCAM were set to 24142340; 20034091; 19820410; 18572020

22 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: epcam has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 2

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

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: epcam has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 2

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

17 Apr 2018, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

Expert list was added to EPCAM. Panel: Gastrointestinal epithelial barrier disorders

17 Apr 2018, Gel status: 2

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

17 Apr 2018, Gel status: 1

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

17 Apr 2018, Gel status: 1

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

26 Jan 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

EPCAM was created by sleigh

26 Jan 2017, Gel status: 1

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