Cytopenias and congenital anaemias
Gene: RPS17EnsemblGeneIds (GRCh38): ENSG00000182774
EnsemblGeneIds (GRCh37): ENSG00000182774
OMIM: 180472, Gene2Phenotype
RPS17 is in 9 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient evidence for causation. Relevant phenotypeCreated: 28 Feb 2017, 1:59 p.m.
4 independent cases in the 4 reports. 2 abolish start codon, 1 CNV. All with Diamond-Blackfan anaemia.Created: 16 Feb 2017, 4:47 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Diamond-Blackfan anemia 4 612527
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Diamond-Blackfan anemia 4 612527
- OMIM
- 180472
- Clinvar variants
- Variants in RPS17
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for RPS17 were set to Diamond-Blackfan anemia 4 612527
Set publications
Helen Brittain (Genomics England Curator)Publications for RPS17 were set to 17647292; 19061985; 19953637; 22045982
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Louise Daugherty (Genomics England Curator)RPS17 was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)RPS17 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list