ClinGen Gene Validity Curations

Gene: RPS10

Green List (high evidence)

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

1 review

Ellen McDonagh (Genomics England Curator)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Diamond-Blackfan anemia
  • OrphaNet ORPHA124
  • OMIM 613308
OMIM
603632
Clinvar variants
Variants in RPS10
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS10 was added to ClinGen Gene Validity Curationspanel. Source: Expert Review Green

20 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS10 was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen

20 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RPS10 was created by ellenmcdonagh