RPL13

ribosomal protein L13
OMIM: 113703, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red RPL13 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Diamond-Blackfan anaemia
Green RPL13 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, OMIM:618728
    Red RPL13 in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • Spondyloepimetaphyseal Dysplasia with Severe Short Stature