FAS

Fas cell surface death receptor
OMIM: 134637, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green FAS in Haematological malignancies


Level 2: Cancer susceptibility
Version 0.148

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmunie lymphoproliferative syndrome
  • Class: miscellaneous
  • Lymphoma

Green FAS in Mendeliome


Version 2.588

2 reviews 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 2.11

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews 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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.7

    1 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 2.0

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 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