Haematological malignancies cancer susceptibility
Gene: RPS28EnsemblGeneIds (GRCh38): ENSG00000233927
EnsemblGeneIds (GRCh37): ENSG00000233927
OMIM: 603685, Gene2Phenotype
RPS28 is in 8 panels
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- 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
- OMIM
- 603685
- Clinvar variants
- Variants in RPS28
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Sarah Leigh: RPS27a promotes the proliferat
Added New Source
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to RPS28. Panel: Haematological malignancies pertinent cancer susceptibility
Added New Source
Ellen McDonagh (Genomics England Curator)RPS28 was added to Haematological malignanciespanel. Sources: Curated sources
Created
Ellen McDonagh (Genomics England Curator)RPS28 was created by ellenmcdonagh