PanelApp
  1. Genes and Genomic Entities
  2. EPCAM

EPCAM

epithelial cell adhesion molecule
OMIM: 185535, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Red EPCAM in Cataract


Level 2: Ophthalmological disorders
Version 0.375

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital diarrhoea 5 with tufting enteropathy
  • Lynch syndrome

Green EPCAM in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 1.23

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217

Amber EPCAM in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.126

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217

    Green EPCAM in Mendeliome


    Version 1.3499

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217

    Red EPCAM in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.132

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Colorectal cancer, hereditary nonpolyposis, type 8, MIM# 613244

    Green EPCAM in Additional findings_Adult


    Level 2: Screening
    Version 1.130

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lynch syndrome 8, MONDO:0013196
    Tags
    • SV/CNV

    Green EPCAM in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)

    Green EPCAM in Medulloblastoma


    Level 2: Cancer Predisposition
    Version 1.1

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Medulloblastoma, MONDO:0007959
    • Lynch syndrome 8, MONDO:0013196
    • Lynch syndrome 8, MIM#613244

    Red EPCAM in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Lynch syndrome

    Green EPCAM in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		1 review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green EPCAM in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)

    Red EPCAM in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Lynch syndrome

    Green EPCAM in Pancreatic Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    		1 review 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

    Green EPCAM in Colorectal Cancer and Polyposis


    Level 2: Cancer Predisposition
    Version 1.1

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Lynch syndrome 8, MONDO:0013196
    • Lynch syndrome 8, MIM#613244

    Green EPCAM in Prostate Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Prostate cancer, MONDO:0008315
    • Lynch syndrome 8, MONDO:0013196
    • Lynch syndrome 8, MIM#613244

    Green EPCAM in Endometrial Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Endometrial cancer, MONDO:0011962
    • Lynch syndrome 8, MONDO:0013196
    • Lynch syndrome 8, MIM#613244

    Green EPCAM in Ovarian Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Ovarian cancer, MONDO:0008170
    • Lynch syndrome 8, MONDO:0013196
    • Lynch syndrome 8, MIM#613244