1. Genes and Genomic Entities
  2. EPCAM

EPCAM

epithelial cell adhesion molecule
OMIM: 185535, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Red EPCAM in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.20

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 1.44

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217
Green EPCAM in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217
Green EPCAM in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.40

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244
Red EPCAM in COVID-19 research


Level 2: Viral research
Version 1.142

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, OMIM:613217
Red EPCAM in Inherited ovarian cancer (without breast cancer)

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 4.3
Latest signed off version: v4.0 (22 Mar 2023)

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 1.22

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244
Tags
  • structural-variant
Green EPCAM in Inherited MMR deficiency (Lynch syndrome)


Version 1.12
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 and early onset colorectal cancer - germline testing


Version 2.10
Latest signed off version: v2.0 (30 Nov 2022)

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 or congenital diarrhoea


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

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 or monogenic inflammatory bowel disease


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • GOSH PID v.8.0
Phenotypes
  • Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217
Green EPCAM in Adult solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.29
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
  • Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244
Green EPCAM in DDG2P


Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, OMIM:613217