Haematological malignancies cancer susceptibility
Gene: RPL23
RPL23 (ribosomal protein L23)
EnsemblGeneIds (GRCh38): ENSG00000125691
EnsemblGeneIds (GRCh37): ENSG00000125691
OMIM: 603662, Gene2Phenotype
RPL23 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000125691
EnsemblGeneIds (GRCh37): ENSG00000125691
OMIM: 603662, Gene2Phenotype
RPL23 is in 2 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
- Tags
- OMIM
- 603662
- Clinvar variants
- Variants in RPL23
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
8 May 2022, Gel status: 3
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: RPL23.
7 Sep 2018, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on mode of inheritance
30 Jan 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to RPL23. Panel: Haematological malignancies pertinent cancer susceptibility
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)RPL23 was added to Haematological malignanciespanel. Sources: Curated sources
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RPL23 was created by ellenmcdonagh