RPL31

ribosomal protein L31
OMIM: 617415, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber RPL31 in Haematological malignancies


Level 2: Cancer susceptibility
Version 0.148

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Curated sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteosarcoma, soft tissue sarcomas
  • Diamond Blackfan Anemia
  • MDS, AML
  • Class: BM failure syndrome (typ AR)

Amber RPL31 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.9

Component of the following Super Panels:

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

    Amber RPL31 in Diamond Blackfan anaemia


    Level 2: Haematological disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond Blackfan anaemia

    Amber RPL31 in Mendeliome


    Version 2.588

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond Blackfan anaemia

    Amber RPL31 in Red cell disorders


    Level 2: Haematological disorders
    Version 2.4

    1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond Blackfan anaemia

    Green RPL31 in IBMDx study


    Version 1.2

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