Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: EPCAMComment on list classification: Promoted from red to green due to expert review and curated evidence.Created: 12 Oct 2016, 11:37 a.m.
Comment on phenotypes: At least two variants reported in Colorectal cancer, hereditary nonpolyposis, type 8 613244Created: 2 Sep 2016, 10:03 a.m.
Associated with phenotype in OMIM, not in G2P / DD. Nine variants reported as homozygotes or compound heterozygotesCreated: 2 Sep 2016, 10:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diarrhea 5, with tufting enteropathy, congenital 613217
Publications
Phenotypes for gene: EPCAM were changed from Diarrhea 5, with tufting enteropathy, congenital 613217 to Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for EPCAM were set to Diarrhea 5, with tufting enteropathy, congenital 613217
EPCAM was created by sleigh
EPCAM was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Literature,Radboud University Medical Center, Nijmegen