RPL9

ribosomal protein L9
OMIM: 603686, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red RPL9 in Cytopenias and congenital anaemias

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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Diamond-Blackfan anemia
Green RPL9 in Rare anaemia


Version 3.8
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond-Blackfan anemia
  • ?Diamond-Blackfan anaemia
  • N/A Diamond-Blackfan anemia
Tags
  • gene-checked
Amber RPL9 in Cytopenia - NOT Fanconi anaemia


Version 3.34
Latest signed off version: v3.0 (22 Mar 2023)

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