IBMDx study
Gene: RPS27
RPS27 (ribosomal protein S27)
EnsemblGeneIds (GRCh38): ENSG00000177954
EnsemblGeneIds (GRCh37): ENSG00000177954
OMIM: 603702, Gene2Phenotype
RPS27 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000177954
EnsemblGeneIds (GRCh37): ENSG00000177954
OMIM: 603702, Gene2Phenotype
RPS27 is in 6 panels
2 reviews
vahid pazhakh (Peter MacCallum Cancer Centre)
A heterozygous de novo 1-bp deletion in the RPS27 gene in a 4-year-old girl with Diamond-Blackfan anemia-17. In vitro cellular studies and zebrafish animal model (morpholino knockdown) support the role of RPS27 in the maturation of18S rRNAs, and erythrocyte production [PMID: 25424902].Created: 9 Feb 2022, 11:56 p.m. | Last Modified: 9 Feb 2022, 11:56 p.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 17, MIM# 617409
Publications
- Publications (PMID: 25424902)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single individual reported.Created: 14 Sep 2020, 10:22 a.m. | Last Modified: 14 Sep 2020, 10:22 a.m.
Panel Version: 0.123
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 17, MIM# 617409
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- IBMDx Study
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Diamond-Blackfan anemia 17, MIM# 617409
- OMIM
- 603702
- Clinvar variants
- Variants in RPS27
- Penetrance
- None
- Panels with this gene
History Filter Activity
10 Dec 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RPS27 was added gene: RPS27 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: RPS27 was set to Unknown Phenotypes for gene: RPS27 were set to Diamond-Blackfan anemia 17, MIM# 617409