RPL8

ribosomal protein L8
OMIM: 604177, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber RPL8 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.112

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Diamond-Blackfan anemia MONDO:0015253

    Amber RPL8 in Diamond Blackfan anaemia


    Level 2: Haematological disorders
    Version 1.8

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Diamond-Blackfan anemia MONDO:0015253

    Amber RPL8 in Mendeliome


    Version 1.2302

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Diamond-Blackfan anemia MONDO:0015253