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Newborns main panel

Gene: EPCAM

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Gene removed from study but not the pipeline.

Additional Information: A decision was made to remove this gene from the study. Variants should be ignored while the gene is being removed from the pipeline.
Created: 15 Oct 2025, 2:51 p.m. | Last Modified: 15 Oct 2025, 2:51 p.m.
Panel Version: 0.480
Special Consideration: Awareness.

Additional Information: Deletion of the 3-prime end of the EPCAM gene is associated with Lynch syndrome. Lynch Syndrome is not included in the study so this type of variant should not be reported.
Created: 26 Sep 2024, 12:33 p.m. | Last Modified: 26 Sep 2024, 12:33 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 12:33 p.m.
Last Modified: 26 Sep 2024, 12:33 p.m.
Panel version: 0.480

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 36451688 - 116 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

24 Nov 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: epcam has been classified as Amber List (Moderate Evidence).

15 Oct 2025, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag condition_removed tag was added to gene: EPCAM.

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: EPCAM.

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diarrhea 5, with tufting enteropathy, congenital for gene: EPCAM

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to EPCAM. Added phenotypes Diarrhea 5, with tufting enteropathy, congenital for gene: EPCAM Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to EPCAM. Mode of inheritance for gene EPCAM was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Diarrhea 5, with tufting enteropathy, congenital for gene: EPCAM Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diarrhea 5, with tufting enteropathy, congenital for gene: EPCAM

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: EPCAM was added gene: EPCAM was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown