Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: EPCAM
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
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Gene: epcam has been classified as Red List (Low Evidence).
Gene: epcam has been classified as Red List (Low Evidence).
Expert Review Amber was added to EPCAM. Panel: Primary immunodeficiency disorders
EPCAM Source: GOSH PID 20171148 was removed from gene: EPCAM
GOSH PID v.8.0 was added to EPCAM. Panel: Primary immunodeficiency disorders
EPCAM was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171148
EPCAM was created by Louise Daugherty