Haematological malignancies for rare disease
Gene: RPS24EnsemblGeneIds (GRCh38): ENSG00000138326
EnsemblGeneIds (GRCh37): ENSG00000138326
OMIM: 602412, Gene2Phenotype
RPS24 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
- 602412
- Clinvar variants
- Variants in RPS24
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
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.
Added New Source
Ellen McDonagh (Genomics England Curator)RPS24 was added to Haematological malignancies for rare disease panel. Sources: Curated sources,Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)RPS24 was created by Ellen McDonagh