Congenital Diarrhoea
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)
Congenital tufting enteropathy (CTE) is a rare inherited intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum. CTE presents in the first few months of life with chronic watery diarrhea and failure to thrive, and most affected individuals require parenteral nutrition for normal growth and development.
More than 50 unrelated families reported.Created: 4 Jan 2021, 3:35 a.m. | Last Modified: 4 Jan 2021, 3:35 a.m.
Panel Version: 0.23
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217
- OMIM
- 185535
- Clinvar variants
- Variants in EPCAM
- Penetrance
- None
- Publications
- 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).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: EPCAM were changed from to Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: EPCAM were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: EPCAM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 Congenital Diarrhoea_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EPCAM was set to Unknown