Haematological malignancies for rare disease
Gene: RPS15Single missense variant was identified in a patient with Diamond-Blackfan anemia (PMID: 19061985) but at the time of reporting this individual did not suffer from cancer. This association with DBA has since been propagated in literature but no further cases since the initial paper have been published.
A number of studies have been released linking RPS15 to chronic lymphocytic leukemia - BUT due to somatic rather than germline variants (PMID: 26466571; 26675346; 30181176). Functional studies show variants lead to altered ribosomal function regarding both protein synthesis and translational fidelity (PMID: 30181176; 34251413)Created: 1 Sep 2022, 10:33 a.m. | Last Modified: 1 Sep 2022, 10:33 a.m.
Panel Version: 1.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia; Chronic lymphocytic leukemia
Publications
Previous review reffer to PMID:28297620 which present RPS15 in their table for Diamond-Blackfan anemia, but in the citations from the table - there is no mention of RPS15. VUS in RPS15 is reported in 19061985, but no further evidence, to the best of my knowledge, so there is currently not enough evidence for gene to be green.Created: 30 Jun 2022, 11:59 a.m. | Last Modified: 30 Jun 2022, 11:59 a.m.
Panel Version: 1.12
Publications
Gene listed in Table 2 (Genes Involved in Predisposition to Hematologic Malignancies) in PMID:28297620Created: 9 May 2022, 9:47 a.m. | Last Modified: 9 May 2022, 9:47 a.m.
Panel Version: 1.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Tag somatic tag was added to gene: RPS15.
Phenotypes for gene: RPS15 were changed from Class: BM failure syndrome (typ AR); Diamond Blackfan Anemia; MDS, AML; Osteosarcoma, soft tissue sarcomas to Diamond-Blackfan anemia; Chronic lymphocytic leukemia
Publications for gene: RPS15 were set to 28297620
Tag watchlist tag was added to gene: RPS15.
Tag gene-checked tag was added to gene: RPS15.
22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
RPS15 was added to Haematological malignancies for rare disease panel. Sources: Expert Review Green,Curated sources
RPS15 was created by Ellen McDonagh