FAAP100

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber FAAP100 in Limb disorders


Level 2: Musculoskeletal
Version 7.17
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Fanconi anemia, complementation group X, OMIM:621258
    • Fanconi anemia, MONDO:0019391
    Tags
    • Q1_26_promote_green
    Amber FAAP100 in Confirmed Fanconi anaemia or Bloom syndrome


    Level 2: Haematology
    Version 2.13
    Latest signed off version: v2.5 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Fanconi anemia, complementation group X, OMIM:621258
    • Fanconi anemia, MONDO:0019391
    Tags
    • Q1_26_promote_green
    Green FAAP100 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Fanconi anemia, complementation group X, OMIM:621258