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IBMDx study

Gene: RPS7

Green List (high evidence)
RPS7 (ribosomal protein S7)
EnsemblGeneIds (GRCh38): ENSG00000171863
EnsemblGeneIds (GRCh37): ENSG00000171863
OMIM: 603658, Gene2Phenotype
RPS7 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.
Created: 6 Mar 2021, 2:44 a.m. | Last Modified: 6 Mar 2021, 2:44 a.m.
Panel Version: 0.193

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 8, MIM# 612563; MONDO:0012939

Publications

Created: 6 Mar 2021, 2:44 a.m.
Last Modified: 6 Mar 2021, 2:44 a.m.
Panel version: Imported from Bone Marrow Failure panel version 0.193

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 8, MIM# 612563
  • MONDO:0012939
OMIM
603658
Clinvar variants
Variants in RPS7
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: RPS7 was added gene: RPS7 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: RPS7 was set to Unknown Phenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8, MIM# 612563; MONDO:0012939