RPS27

ribosomal protein S27
OMIM: 603702, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red RPS27 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 Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 17, MIM# 617409

    Red RPS27 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 17, MIM# 617409

    Red RPS27 in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 17, MIM# 617409

    Red RPS27 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.29

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • North West GLH
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 17, MIM# 617409

    Green RPS27 in IBMDx study


    Version 0.35

    review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 17, MIM# 617409

    Red RPS27 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 17, MIM# 617409
    Tags
    • for review
    • treatable
    • haematological