PSENEN

presenilin enhancer gamma-secretase subunit
OMIM: 607632, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PSENEN in Mendeliome


Version 1.2656

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736

Green PSENEN in Defects of intrinsic and innate immunity


Level 2: Immunological disorders
Version 1.20

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736

    Green PSENEN in Hereditary Pigmentary Disorders


    Level 2: Dermatological disorders
    Version 1.3

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dowling-Degos disease MONDO:0008371