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Limb disorders

Gene: RPS10

Green List (high evidence)

RPS10 (ribosomal protein S10)
EnsemblGeneIds (GRCh38): ENSG00000124614
EnsemblGeneIds (GRCh37): ENSG00000124614
OMIM: 603632, Gene2Phenotype
RPS10 is in 9 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)

Green List (high evidence)

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
  • Victorian Clinical Genetics Services
Phenotypes
  • upper limb malformation
  • Diamond-Blackfan anemia 9, 613308
  • Radial Ray abnormality
OMIM
603632
Clinvar variants
Variants in RPS10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Rebecca Foulger: Doherty et al. (2010, PMID:201

16 Oct 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to RPS10. Mode of inheritance for gene RPS10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 9, 613308; upper limb malformation for gene: RPS10 Publications for gene RPS10 were changed from to 20116044

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS10 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

RPS10 was created by Ellen McDonagh