RPL26

ribosomal protein L26
OMIM: 603704, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green RPL26 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 Green
    • Expert list
    Phenotypes
    • Diamond-Blackfan anemia 11, MIM# 614900

    Green RPL26 in Diamond Blackfan anaemia


    Level 2: Haematological disorders
    Version 1.8

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anemia 11, MIM# 614900

    Green RPL26 in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anaemia 11, MIM# 614900

    Green RPL26 in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.15

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anaemia 11, MIM# 614900

    Green RPL26 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.29

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • London South GLH
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anaemia 11, MIM# 614900

    Green RPL26 in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Diamond-Blackfan anaemia 11, MIM# 614900

    Amber RPL26 in IBMDx study


    Version 0.35

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • IBMDx Study
    • Expert list
    Phenotypes
    • Diamond-Blackfan anemia 11, MIM# 614900

    Red RPL26 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 11 , MIM# 614900