EPCAM

epithelial cell adhesion molecule
OMIM: 185535, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Red EPCAM in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.14

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer

Green EPCAM in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Diarrhea 5, with tufting enteropathy, congenital 613217

Green EPCAM in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.60

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diarrhea 5, with tufting enteropathy, congenital 613217
  • Diarrhea 5, with tufting enteropathy, congenital
  • Colorectal cancer, hereditary nonpolyposis, type 8, 613244
  • Diarrhea 5, with tufting enteropathy, congenital, 613217

Green EPCAM in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.24

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Lynch syndrome

Red EPCAM in COVID-19 research


Level 2: Viral research
Version 1.79

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • GOSH PID v.8.0
  • GOSH PID v.8.0
Phenotypes
  • Diarrhea 5, with tufting enteropathy, congenital

Red EPCAM in Inherited ovarian cancer (without breast cancer)

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 2.21
Latest signed off version: v2.2 (4 Mar 2020)

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer

Green EPCAM in GI tract tumours

Level 3: GI tract
Level 2: Tumour syndromes
Version 1.18

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
Tags
  • structural-variant

Green EPCAM in Inherited MMR deficiency (Lynch syndrome)


Version 1.9
Latest signed off version: v1.2 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert List
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244
  • Colorectal cancer, hereditary nonpolyposis, type 8, MONDO:0013196

Green EPCAM in Inherited polyposis


Version 1.24
Latest signed off version: v1.2 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244

Green EPCAM in Intestinal failure


Version 1.42
Latest signed off version: v1.2 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217

Red EPCAM in Primary immunodeficiency


Version 2.444
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • GOSH PID v.8.0
Phenotypes
  • Diarrhea 5, with tufting enteropathy, congenital

Green EPCAM in Adult solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.13
Latest signed off version: v2.2 (18 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Lynch syndrome