Pancreatic Cancer
Gene: EPCAMEnsemblGeneIds (GRCh38): ENSG00000119888
EnsemblGeneIds (GRCh37): ENSG00000119888
OMIM: 185535, Gene2Phenotype
EPCAM is in 16 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Pancreatic cancer reported in condition.
Deletion of 3’end of EPCAM gene leading to epigenetic silencing of adjacent downstream MSH2 gene.
Sources: Expert list, Expert ReviewCreated: 12 Sep 2024, 9:17 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Malignant pancreatic neoplasm, MONDO:0009831; Lynch syndrome 8, MONDO:0013196; Lynch syndrome 8, MIM#613244
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Malignant pancreatic neoplasm, MONDO:0009831
- Lynch syndrome 8, MONDO:0013196
- Lynch syndrome 8, MIM#613244
- OMIM
- 185535
- Clinvar variants
- Variants in EPCAM
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prostate Cancer
- Prepair 1000+
- Ovarian Cancer
- Incidentalome_PREGEN_DRAFT
- Pancreatic Cancer
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Colorectal Cancer and Polyposis
- Cancer Predisposition_Paediatric
- Medulloblastoma
- Endometrial Cancer
- Additional findings_Paediatric
- Mendeliome
- Cataract
- Congenital Diarrhoea
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: epcam has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: epcam has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: EPCAM was added gene: EPCAM was added to Pancreatic Cancer. Sources: Expert list,Expert Review Mode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EPCAM were set to Malignant pancreatic neoplasm, MONDO:0009831; Lynch syndrome 8, MONDO:0013196; Lynch syndrome 8, MIM#613244 Review for gene: EPCAM was set to GREEN