RPL31

ribosomal protein L31
OMIM: 617415, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RPL31 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
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: BM failure syndrome (typ AR)
  • Diamond Blackfan Anemia
  • MDS, AML
  • Osteosarcoma, soft tissue sarcomas
Tags
  • gene-checked

Red RPL31 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.106

review Unknown
Sources
  • Expert Review Red
  • Expert list
  • Literature

Green RPL31 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
  • gene-checked

Green RPL31 in Rare anaemia


Version 1.41
Latest signed off version: v1.2 (3 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • N/A ? Diamond-Blackfan Anaemia
Tags
  • gene-checked

Amber RPL31 in Cytopenia - NOT Fanconi anaemia


Version 1.70
Latest signed off version: v1.29 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond-Blackfan anaemia