Haematological malignancies for rare disease

Gene: RPL15

Green List (high evidence)

RPL15 (ribosomal protein L15)
EnsemblGeneIds (GRCh38): ENSG00000174748
EnsemblGeneIds (GRCh37): ENSG00000174748
OMIM: 604174, Gene2Phenotype
RPL15 is in 8 panels

1 review

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
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
OMIM
604174
Clinvar variants
Variants in RPL15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2018, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.

10 Apr 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RPL15 was added to Haematological malignancies for rare disease panel. Sources: Expert Review Green,Curated sources

10 Apr 2018, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

RPL15 was created by Ellen McDonagh