Gene Symbol:
EPCAM
HGNC:11529
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2p21
Filters:

Ambry Genetics classifications

Lynch syndrome 8
Submitted as: OMIM:613244
AD
08/07/2019
Evaluated
12/24/2020
Submitted
congenital diarrhea 5 with tufting enteropathy
Submitted as: OMIM:613217
AR
07/17/2017
Evaluated
12/24/2020
Submitted

ClinGen classifications

Genomics England PanelApp classifications

Lynch syndrome 8
Submitted as: OMIM:613244
AD
03/04/2020
Evaluated
03/31/2021
Submitted

Invitae classifications

congenital diarrhea 5 with tufting enteropathy
Submitted as: OMIM:613217
AR
06/29/2021
Evaluated
11/30/2023
Submitted
Lynch syndrome 8
Submitted as: OMIM:613244
AD
11/08/2022
Evaluated
11/30/2023
Submitted

Orphanet classifications

Lynch syndrome
Submitted as: Orphanet:144
AD
09/14/2021
Evaluated
09/14/2021
Submitted
congenital diarrhea 5 with tufting enteropathy
Submitted as: Orphanet:92050
AR
09/14/2021
Evaluated
09/14/2021
Submitted

PanelApp Australia classifications

congenital diarrhea 5 with tufting enteropathy
Submitted as: OMIM:613217
AR
01/05/2021
Evaluated
01/21/2021
Submitted

G2P classifications

congenital diarrhea 5 with tufting enteropathy
Submitted as: OMIM:613217
AR
07/16/2020
Evaluated
09/11/2023
Submitted
Lynch syndrome 8
Submitted as: OMIM:613244
MIT
11/29/2016
Evaluated
09/11/2023
Submitted

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