Cancer Predisposition_Paediatric
Gene: EPCAMEnsemblGeneIds (GRCh38): ENSG00000119888
EnsemblGeneIds (GRCh37): ENSG00000119888
OMIM: 185535, Gene2Phenotype
EPCAM is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Hereditary nonpolyposis colorectal cancer resulting from heterozygous deletion of 3-prime exons of the EPCAM gene and intergenic regions directly upstream of the MSH2 gene, resulting in transcriptional read-through and epigenetic silencing of MSH2 in tissues expressing EPCAM. Generally not paediatric onset.Created: 1 Aug 2020, 7:49 a.m. | Last Modified: 1 Aug 2020, 7:49 a.m.
Panel Version: 0.43
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Colorectal cancer, hereditary nonpolyposis, type 8, MIM# 613244
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Colorectal cancer, hereditary nonpolyposis, type 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 Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: EPCAM were changed from to Colorectal cancer, hereditary nonpolyposis, type 8, MIM# 613244
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: EPCAM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: epcam has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EPCAM was added gene: EPCAM was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EPCAM was set to Unknown