RPL4

ribosomal protein L4
OMIM: 180479, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red RPL4 in Diamond Blackfan anaemia


Level 2: Haematological disorders
Version 1.20

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Diamond Blackfan anaemia, MONDO:0015253, RPL4-related

Red RPL4 in Mendeliome


Version 1.4788

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Diamond Blackfan anaemia, MONDO:0015253, RPL4-related