COVID-19 research
Gene: EPCAMComment on list classification: No gene disease association.Created: 6 Apr 2020, 2:37 p.m. | Last Modified: 6 Apr 2020, 2:37 p.m.
Panel Version: 0.53
This is an epithelial defect, not an immune problemCreated: 29 Jun 2018, 1:43 p.m.
Comment on list classification: External expert review notes Red status due to no evident link to immunodeficiency, so I have kept this gene Red on this panel until further evidence has been published.Created: 3 Jul 2018, 10:13 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.Created: 20 Apr 2018, 12:25 p.m.
Phenotypes for gene: EPCAM were changed from Diarrhea 5, with tufting enteropathy, congenital to Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217
Gene: epcam has been classified as Red List (Low Evidence).
gene: EPCAM was added gene: EPCAM was added to Viral susceptibility. Sources: Expert Review Red,GOSH PID v.8.0 Mode of inheritance for gene: EPCAM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPCAM were set to Diarrhea 5, with tufting enteropathy, congenital