RPS27

ribosomal protein S27
OMIM: 603702, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green RPS27 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.16

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • ?Diamond-Blackfan anemia 17, OMIM:617409
  • Class: BM failure syndrome (typ AR)
  • MDS, AML
  • Osteosarcoma, soft tissue sarcomas
Red RPS27 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • ?Diamond-Blackfan anemia 17, OMIM:617409
Green RPS27 in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • ?Diamond-Blackfan anemia 17, OMIM:617409
  • Class: BM failure syndrome (typ AR)
  • MDS, AML
  • Osteosarcoma, soft tissue sarcomas
Amber RPS27 in Rare anaemia


Version 3.8
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • North West GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Diamond-Blackfan anemia 17, OMIM:617409
Red RPS27 in Cytopenia - NOT Fanconi anaemia


Version 3.32
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Diamond-Blackfan anemia 17, OMIM:617409