RPS27A

ribosomal protein S27a
OMIM: 191343, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red RPS27A in Haematological malignancies


Level 2: Cancer susceptibility
Version 0.148

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Curated sources
Phenotypes
  • Osteosarcoma, soft tissue sarcomas
  • Diamond Blackfan Anemia
  • MDS, AML
  • Class: BM failure syndrome (typ AR)

Red RPS27A in Mendeliome


Version 2.612

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Curated sources
  • Expert Review Red
  • Expert Review Red
  • Curated sources
Phenotypes
  • Osteosarcoma, soft tissue sarcomas
  • Diamond Blackfan Anemia
  • MDS, AML
  • Class: BM failure syndrome (typ AR)