RPL17

ribosomal protein L17
OMIM: 603661, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red RPL17 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Diamond-Blackfan anemia, MONDO:0015253
    Green RPL17 in Rare anaemia


    Level 2: Haematology
    Version 3.19
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Diamond-Blackfan anemia 22, OMIM:621262
    • Diamond-Blackfan anemia 22, MONDO:0979244
    Green RPL17 in Cytopenia - NOT Fanconi anaemia


    Level 2: Haematology
    Version 4.32
    Latest signed off version: v4.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Diamond-Blackfan anemia 22, OMIM:621262
    • Diamond-Blackfan anemia 22, MONDO:0979244