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IBMDx study

Gene: RPS10

Green List (high evidence)
RPS10 (ribosomal protein S10)
EnsemblGeneIds (GRCh38): ENSG00000124614
EnsemblGeneIds (GRCh37): ENSG00000124614
OMIM: 603632, Gene2Phenotype
RPS10 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association, more than 5 unrelated families reported.
Created: 5 Mar 2021, 10:25 p.m. | Last Modified: 5 Mar 2021, 10:25 p.m.
Panel Version: 0.59

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 9, MIM# 613308

Publications

Created: 5 Mar 2021, 10:25 p.m.
Last Modified: 5 Mar 2021, 10:25 p.m.
Panel version: Imported from Bone Marrow Failure panel version Imported from Diamond Blackfan anaemia panel version 0.59

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anaemia 9, MIM# 613308
OMIM
603632
Clinvar variants
Variants in RPS10
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPS10 was added gene: RPS10 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: RPS10 was set to Unknown Phenotypes for gene: RPS10 were set to Diamond-Blackfan anaemia 9, MIM# 613308