Intestinal failureGene: EPCAM
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.
Comment 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 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
Diarrhea 5, with tufting enteropathy, congenital 613217
Phenotypes for gene: EPCAM were changed from Diarrhea 5, with tufting enteropathy, congenital 613217 to Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217
Gene: epcam has been classified as Green List (High Evidence).
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
Source Expert Review Green was added to EPCAM. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: EPCAM was added gene: EPCAM was added to Intestinal failure. Sources: NHS GMS Mode of inheritance for gene: EPCAM was set to