RPS27A

ribosomal protein S27a
OMIM: 191343, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green RPS27A in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.12

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

Green RPS27A in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.34
Latest signed off version: v2.2 (18 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: BM failure syndrome (typ AR)
  • Diamond Blackfan Anemia
  • MDS, AML
  • Osteosarcoma, soft tissue sarcomas
Tags
  • watchlist
  • pharmacogenetics
  • gene-checked