RPS20

ribosomal protein S20
OMIM: 603682, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber RPS20 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Amber
  • Literature
Phenotypes
  • Diamond Blackfan anaemia

Amber RPS20 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 anaemia

Amber RPS20 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Diamond Blackfan anaemia

Green RPS20 in Incidentalome_PREGEN_DRAFT


Version 0.43

review Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Green RPS20 in IBMDx study


Version 0.25

review Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Amber
  • Literature
  • Expert Review Amber
  • Literature
Phenotypes
  • Diamond Blackfan anaemia