RPL13

ribosomal protein L13
OMIM: 113703, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red RPL13 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.88

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 2.137
Latest signed off version: v2.2 (13 Feb 2020)

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