Infantile enterocolitis & monogenic inflammatory bowel disease

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

3 reviews

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)

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: At least two variants reported in Colorectal cancer, hereditary nonpolyposis, type 8 613244
Created: 2 Sep 2016, 10:03 a.m.
Associated with phenotype in OMIM, not in G2P / DD. Nine variants reported as homozygotes or compound heterozygotes
Created: 2 Sep 2016, 10:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diarrhea 5, with tufting enteropathy, congenital 613217

Publications

History Filter Activity

14 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

12 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Sep 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for EPCAM were set to Diarrhea 5, with tufting enteropathy, congenital 613217

2 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

EPCAM was created by sleigh

2 Sep 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

EPCAM was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Literature,Radboud University Medical Center, Nijmegen