RPL9

ribosomal protein L9
OMIM: 603686, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber RPL9 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Diamond Blackfan anaemia

    Amber RPL9 in Diamond Blackfan anaemia


    Level 2: Haematological disorders
    Version 1.8

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Diamond Blackfan anaemia

    Amber RPL9 in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Diamond Blackfan anaemia

    Amber RPL9 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.29

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • North West GLH
    • London South GLH
    • Expert list
    Phenotypes
    • Diamond Blackfan anaemia

    Green RPL9 in IBMDx study


    Version 0.35

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Diamond Blackfan anaemia