RPL8:Ensemblv90

ribosomal protein L8
OMIM: 604177, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber RPL8 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.131

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 1.11

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

    Amber RPL8 in Mendeliome


    Version 1.3802

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

    Amber RPL8 in Bone Marrow Failure


    Level 2: Haematological disorders
    Version 2.0

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

    Amber RPL8 in Diamond Blackfan anaemia


    Level 2: Haematological disorders
    Version 2.0

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