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

Definitive classifications

congenital diarrhea 5 with tufting enteropathy
Submitted as: OMIM:613217
AR
07/16/2020
Evaluated
11/25/2020
Submitted
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

Strong classifications

Lynch syndrome 8
Submitted as: OMIM:613244
AD
03/04/2020
Evaluated
03/31/2021
Submitted
congenital diarrhea 5 with tufting enteropathy
Submitted as: OMIM:613217
AR
01/05/2021
Evaluated
01/21/2021
Submitted
congenital diarrhea 5 with tufting enteropathy
Submitted as: OMIM:613217
AR
07/23/2021
Evaluated
02/03/2022
Submitted
Lynch syndrome
Submitted as: OMIM:613244
AD
07/29/2019
Evaluated
02/03/2022
Submitted

Supportive 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

No Known Disease Relationship classifications

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