RPL18

ribosomal protein L18
OMIM: 604179, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red RPL18 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.124

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Diamond-Blackfan anaemia
Amber RPL18 in Rare anaemia


Level 2: Haematology
Version 4.6
Latest signed off version: v4.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond-Blackfan anaemia
Amber RPL18 in Cytopenia - NOT Fanconi anaemia


Level 2: Haematology
Version 5.2
Latest signed off version: v5.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond-Blackfan anaemia