RPL27

ribosomal protein L27
OMIM: 607526, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red RPL27 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.112

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 16, MIM# 617408

    Red RPL27 in Diamond Blackfan anaemia


    Level 2: Haematological disorders
    Version 1.8

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 16, MIM# 617408

    Red RPL27 in Mendeliome


    Version 1.2302

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 16, MIM# 617408

    Red RPL27 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.29

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • London South GLH
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 16, MIM# 617408

    Amber RPL27 in IBMDx study


    Version 0.33

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • IBMDx Study
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 16, MIM# 617408

    Red RPL27 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 16 , MIM# 617408