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IBMDx study

Gene: RPL5

Green List (high evidence)
RPL5 (ribosomal protein L5)
EnsemblGeneIds (GRCh38): ENSG00000122406
EnsemblGeneIds (GRCh37): ENSG00000122406
OMIM: 603634, Gene2Phenotype
RPL5 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 5 Mar 2021, 10:20 a.m. | Last Modified: 5 Mar 2021, 10:20 a.m.
Panel Version: 0.53

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 6, MIM# 612561; MONDO:0012937

Publications

Created: 5 Mar 2021, 10:20 a.m.
Last Modified: 5 Mar 2021, 10:20 a.m.
Panel version: Imported from Bone Marrow Failure panel version Imported from Diamond Blackfan anaemia panel version 0.56

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0012937
  • Diamond-Blackfan anaemia 6, MIM# 612561
OMIM
603634
Clinvar variants
Variants in RPL5
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: RPL5 was added gene: RPL5 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: RPL5 was set to Unknown Phenotypes for gene: RPL5 were set to MONDO:0012937; Diamond-Blackfan anaemia 6, MIM# 612561