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Inherited MMR deficiency (Lynch syndrome)

Gene: EPCAM

Green List (high evidence)

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

4 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jul 2019, 12:31 p.m. | Last Modified: 31 Jul 2019, 12:31 p.m.
Panel Version: 0.11

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Lara Hawkes (Genomics England)

Green List (high evidence)

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Tumor Suppressor: deletion only
Created: 5 Jul 2017, 12:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Lynch syndrome

History Filter Activity

30 Jan 2019, Gel status: 4

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: EPCAM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

29 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: EPCAM was added gene: EPCAM was added to Inherited MMR deficiency (Lynch syndrome). Sources: Expert List,Expert Review Green,NHS GMS Mode of inheritance for gene: EPCAM was set to