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COVID-19 research

Gene: EPCAM

Red List (low evidence)
EPCAM (epithelial cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000119888
EnsemblGeneIds (GRCh37): ENSG00000119888
OMIM: 185535, Gene2Phenotype
EPCAM is in 13 panels

3 reviews

Catherine Snow (Genomics England)

Comment 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
Created: 6 Apr 2020, 2:37 p.m.
Last Modified: 6 Apr 2020, 2:37 p.m.
Panel version: 0.53

Sophie Hambleton (Newcastle University)

Red List (low evidence)

This is an epithelial defect, not an immune problem
Created: 29 Jun 2018, 1:43 p.m.
Created: 29 Jun 2018, 1:43 p.m.

Panel version: Imported from Primary immunodeficiency panel version 0.1370

Louise Daugherty (Genomics England Curator)

I don't know

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.
Created: 20 Apr 2018, 12:25 p.m.

Panel version: Imported from Primary immunodeficiency panel version 0.220

History Filter Activity

5 Apr 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EPCAM were changed from Diarrhea 5, with tufting enteropathy, congenital to Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217

6 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: epcam has been classified as Red List (Low Evidence).

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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