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IBMDx study

Gene: RPL15

Green List (high evidence)
RPL15 (ribosomal protein L15)
EnsemblGeneIds (GRCh38): ENSG00000174748
EnsemblGeneIds (GRCh37): ENSG00000174748
OMIM: 604174, Gene2Phenotype
RPL15 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

7 unrelated individuals reported to date.
Sources: Expert list
Created: 2 Mar 2020, 1:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 12, MIM# 615550

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Mar 2020, 1:14 a.m.

Panel version: Imported from Bone Marrow Failure panel version 0.35

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 12, MIM# 615550
OMIM
604174
Clinvar variants
Variants in RPL15
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: RPL15 was added gene: RPL15 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: RPL15 was set to Unknown Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12, MIM# 615550