RPL31

Green RPL31 in Haematological malignancies for rare disease

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

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 1.118

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 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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

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 3.31
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Amber
• London South GLH
• NHS GMS
• Wessex and West Midlands GLH

Phenotypes

• Diamond-Blackfan anaemia