Radial dysplasia
Gene: RPS10EnsemblGeneIds (GRCh38): ENSG00000124614
EnsemblGeneIds (GRCh37): ENSG00000124614
OMIM: 603632, Gene2Phenotype
RPS10 is in 8 panels
3 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Diamond-Blackfan anaemia is associated with congenital malformations in approx. 50%. Approximately 38% with upper limb abnormality (inc. triphalangeal, bifid, duplex, hypoplastic or absent thumbs). Therefore considered appropriate for inclusion in the broad differential of radial ray disorders.Created: 11 May 2017, 1:34 p.m.
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Relevant phenotype, confirmed mode-of-inheritance, and sufficient cases.Created: 9 Mar 2017, 9:32 a.m.
Comment on list classification: Diamond Blackfan anemia (DBA) is relevant phenotype for the panel. >3 cases supporting causation in OMIM plus literature.Created: 9 Mar 2017, 9:32 a.m.
Doherty et al. (2010, PMID:20116044) sequenced 35 ribosomal protein genes in a cohort of 117 patients with Diamond-Blackfan anemia, and identified 3 mutations in the RPS10 gene in 5 patients. Additional cases in the Russian population from PMID:25946618.Created: 9 Mar 2017, 9:31 a.m.
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Diamond Blackfan Anaemia (DBA)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Other
- Phenotypes
-
- Diamond-Blackfan anemia 9, 613308
- upper limb malformation
- OMIM
- 603632
- Clinvar variants
- Variants in RPS10
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for RPS10 were set to Diamond-Blackfan anemia 9, 613308; upper limb malformation
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for RPS10 were set to 20116044
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Rebecca Foulger (Genomics England curator)RPS10 was added to Radial dysplasiapanel. Sources: Expert list
Created
Rebecca Foulger (Genomics England curator)RPS10 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)RPS10 was added to Radial dysplasiapanel. Sources: Other