FAS

Fas cell surface death receptor
OMIM: 134637, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green FAS in Vasculitis


Level 2: Immunological disorders
Version 0.86

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

Green FAS in Mendeliome


Version 1.2374

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • autoimmune lymphoproliferative syndrome MONDO:0017979

Green FAS in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 1.10

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review Unknown
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Red FAS in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • Autoimmune lymphoproliferative syndrome, type IA, MIM# 601859

    Green FAS in Autoimmune Lymphoproliferative Syndrome


    Level 2: Immunological disorders
    Version 1.0

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Autoimmune lymphoproliferative syndrome, type IA MIM#601859