RPL8

ribosomal protein L8
OMIM: 604177, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber RPL8 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Diamond-Blackfan anemia MONDO:0015253

Amber RPL8 in Diamond Blackfan anaemia


Level 2: Haematological disorders
Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Diamond-Blackfan anemia MONDO:0015253

Amber RPL8 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Diamond-Blackfan anemia MONDO:0015253