NCSTN:Ensemblv90

nicastrin
OMIM: 605254, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green NCSTN in Mendeliome


Version 1.3802

1 review Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green NCSTN in Defects of intrinsic and innate immunity


Level 2: Immunological disorders
Version 1.24

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Acne inversa, familial, 1 MIM#142690

    Green NCSTN in Defects of intrinsic and innate immunity


    Level 2: Immunological disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Acne inversa, familial, 1 MIM#142690