RPL18

ribosomal protein L18
OMIM: 604179, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber RPL18 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 anemia 18, MIM# 618310

    Amber RPL18 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 anemia 18, MIM# 618310

    Amber RPL18 in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Diamond-Blackfan anemia 18, MIM# 618310

    Amber RPL18 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.29

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    • Wessex and West Midlands GLH
    • NHS GMS
    Phenotypes
    • Diamond-Blackfan anemia 18, MIM# 618310

    Red RPL18 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • Diamond-Blackfan anaemia 18 , MIM# 618310