1. Genes and Genomic Entities
  2. RPL13

RPL13

ribosomal protein L13
OMIM: 113703, Gene2Phenotype

4 panels

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

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.123

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


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

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
    Green RPL13 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

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


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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