EPCAM

epithelial cell adhesion molecule
OMIM: 185535, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Red EPCAM in Cataract


Level 2: Ophthalmological disorders
Version 0.366

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 1.13

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 0.121

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 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 1.1902

    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 0.131

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

    Red EPCAM in NCGC


    Version 0.2

    review Other
    Sources
    • NCGC
    Phenotypes
    • Hereditary nonpolyposis colorectal cancer type 8

    Red EPCAM in TCGA_PANCAN_2018


    Version 0.2

    review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Hereditary nonpolyposis colorectal cancer type 8

    Green EPCAM in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

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

    Red EPCAM in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review 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

    review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green EPCAM in Prepair 1000+


    Level 2: Screening
    Version 1.9

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

    Red EPCAM in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

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