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STRs in panel
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Primary immunodeficiency

Gene: EPCAM

Red List (low evidence)

EPCAM (epithelial cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000119888
EnsemblGeneIds (GRCh37): ENSG00000119888
OMIM: 185535, Gene2Phenotype
EPCAM is in 12 panels

2 reviews

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.

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.

History Filter Activity

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

3 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

3 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to EPCAM. Panel: Primary immunodeficiency disorders

6 Apr 2018, Gel status: 1

Clear Sources

Louise Daugherty (Genomics England Curator)

EPCAM Source: GOSH PID 20171148 was removed from gene: EPCAM

6 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to EPCAM. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

EPCAM was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171148

29 Mar 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

EPCAM was created by Louise Daugherty