Haematological malignancies cancer susceptibility
Gene: RPS15
The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 11:21 a.m. | Last Modified: 30 Jan 2023, 11:21 a.m.
Panel Version: 3.3
This gene has been flagged for GMS expert review as published evidence linking germline variants to haematological malignancies is limited, which may warrant a rating downgrade from Green, subject to review.
RPS15 somatic variants are enriched within chronic lymphocytic leukemia, particularly in aggressive cases - however, the contribution of germline variants is not well-defined.Created: 1 Sep 2022, 10:39 a.m. | Last Modified: 1 Sep 2022, 10:39 a.m.
Panel Version: 2.36
Single 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: 2.34
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia; Chronic lymphocytic leukemia
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: 2.30
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Tag Q3_22_rating was removed from gene: RPS15. Tag Q3_22_expert_review was removed from gene: RPS15.
Source NHS GMS was added to RPS15. Source Expert Review Red was added to RPS15. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag somatic tag was added to gene: RPS15.
Tag Q3_22_rating tag was added to gene: RPS15. Tag Q3_22_expert_review 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 gene-checked tag was added to gene: RPS15.
Ellen McDonagh: Comment on mode of inheritance
Expert Review Green was added to RPS15. Panel: Haematological malignancies pertinent cancer susceptibility
RPS15 was added to Haematological malignanciespanel. Sources: Curated sources
RPS15 was created by ellenmcdonagh