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 8.6
Latest signed off version: v8.0 (6 May 2026)

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 4.2
    Latest signed off version: v4.0 (6 May 2026)

    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 5.2
    Latest signed off version: v5.0 (6 May 2026)

    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