Gastrointestinal epithelial barrier disorders
Gene: EPCAMComment 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diarrhea 5, with tufting enteropathy, congenital 613217
Comment on list classification: Promoted from red to green due to expert review and curated evidence.Created: 12 Oct 2016, 11:37 a.m.
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
Publications for gene: EPCAM were set to 24142340; 20034091; 19820410; 18572020
Gene: epcam has been classified as Green List (High Evidence).
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
Gene: epcam has been classified as Amber List (Moderate Evidence).
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
Expert list was added to EPCAM. Panel: Gastrointestinal epithelial barrier disorders
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
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
Phenotypes for gene EPCAM were set to Diarrhea 5, with tufting enteropathy, congenital 613217, Diarrhea 5, with tufting enteropathy, congenital
EPCAM was created by sleigh
EPCAM was added to Gastrointestinal epithelial barrier disorderspanel. Sources: Eligibility statement prior genetic testing,Radboud University Medical Center, Nijmegen