RPS20

ribosomal protein S20
OMIM: 603682, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber RPS20 in Haematological malignancies


Level 2: Cancer susceptibility
Version 0.148

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

Amber RPS20 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.9

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Expert Review Amber
    • Literature
    Phenotypes
    • Diamond Blackfan anaemia

    Amber RPS20 in Diamond Blackfan anaemia


    Level 2: Haematological disorders
    Version 2.0

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

    Amber RPS20 in Mendeliome


    Version 2.588

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

    Green RPS20 in Incidentalome_PREGEN_DRAFT


    Version 1.0

    0 reviews Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green RPS20 in IBMDx study


    Version 1.2

    2 reviews Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Amber
    • Literature
    • Expert Review Amber
    • Literature
    Phenotypes
    • Diamond Blackfan anaemia