Intestinal failure

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

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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 given
Created: 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)

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

12 Apr 2021, Gel status: 3

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

24 Jan 2019, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

14 Jan 2019, Gel status: 4

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

8 Jan 2019, Gel status: 3

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)

8 Jan 2019, Gel status: 1

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