FAAP100

Fanconi anemia core complex associated protein 100
OMIM: 611301, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green FAAP100 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.118

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Fanconi anaemia, MONDO:0019391, FAAP100-related

    Green FAAP100 in Mendeliome


    Version 1.2656

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Fanconi anaemia, MONDO:0019391, FAAP100-related

    Green FAAP100 in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.18

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Fanconi anaemia, MONDO:0019391, FAAP100-related

    Green FAAP100 in Fetal anomalies


    Version 1.370

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Fanconi anaemia, MONDO:0019391, FAAP100-related