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IBMDx study

Gene: RPS24

Green List (high evidence)
RPS24 (ribosomal protein S24)
EnsemblGeneIds (GRCh38): ENSG00000138326
EnsemblGeneIds (GRCh37): ENSG00000138326
OMIM: 602412, Gene2Phenotype
RPS24 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated individuals reported.
Created: 6 Mar 2021, 2:28 a.m. | Last Modified: 6 Mar 2021, 2:28 a.m.
Panel Version: 0.187

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-blackfan anemia 3, MIM# 610629; MONDO:0012529

Publications

Created: 6 Mar 2021, 2:28 a.m.
Last Modified: 6 Mar 2021, 2:28 a.m.
Panel version: Imported from Bone Marrow Failure panel version 0.187

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0012529
  • Diamond-blackfan anemia 3, MIM# 610629
OMIM
602412
Clinvar variants
Variants in RPS24
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: RPS24 was added gene: RPS24 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: RPS24 was set to Unknown Phenotypes for gene: RPS24 were set to MONDO:0012529; Diamond-blackfan anemia 3, MIM# 610629