PanelApp
  1. Genes and Genomic Entities
  2. EGFR

EGFR

epidermal growth factor receptor
OMIM: 131550, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green EGFR in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.11

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481

Green EGFR in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 2.3

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481

Green EGFR in Mendeliome


Version 2.336

3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481
  • Wooly hair-palmoplantar keratoderma syndrome, MONDO:0014492
  • Acanthosis nigricans MONDO:0007035

Amber EGFR in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 1.3

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Wooly hair-palmoplantar keratoderma syndrome, MONDO:0014492
  • Acanthosis nigricans MONDO:0007035

Green EGFR in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 3.11

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481

    Green EGFR in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 1.6

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481

    Green EGFR in Incidentalome_PREGEN_DRAFT


    Version 1.0

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

    Green EGFR in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 2.5

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_Magnesium v38.1.0
    Phenotypes
    • Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481