Cytopenias and congenital anaemias
Gene: RPS10EnsemblGeneIds (GRCh38): ENSG00000124614
EnsemblGeneIds (GRCh37): ENSG00000124614
OMIM: 603632, Gene2Phenotype
RPS10 is in 8 panels
2 reviews
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, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert list
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes
- Diamond Blackfan anemia
- Diamond-Blackfan Anemia
- Diamond-Blackfan anemia 9, 613308
- Diamond_Blackfan Anemia 9
- DIAMOND-BLACKFAN ANEMIA 9
- OMIM
- 603632
- Clinvar variants
- Variants in RPS10
- 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
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for RPS10 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set publications
Rebecca Foulger (Genomics England curator)Publications for RPS10 were set to 20116044; 25946618; 23718193
Added New Source
Louise Daugherty (Genomics England Curator)RPS10 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Created
Louise Daugherty (Genomics England Curator)RPS10 was created by LouiseD