RPL27

ribosomal protein L27
OMIM: 607526, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber RPL27 in Haematological malignancies


Level 2: Cancer susceptibility
Version 0.148

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Curated sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteosarcoma, soft tissue sarcomas
  • Diamond-Blackfan anaemia 16, MIM# 617408
  • MDS, AML
  • Class: BM failure syndrome (typ AR)

Amber RPL27 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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Diamond-Blackfan anaemia 16, MIM# 617408

    Amber RPL27 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 16, MIM# 617408

    Amber RPL27 in Mendeliome


    Version 2.612

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

    Amber RPL27 in Red cell disorders


    Level 2: Haematological disorders
    Version 2.4

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

    Amber RPL27 in IBMDx study


    Version 1.2

    2 reviews 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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.7

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • Diamond-Blackfan anaemia 16 , MIM# 617408