1. Panels
  2. IBMDx study
  3. RPL35A
STRs in panel
Prev Next
Regions in panel
Prev Next

IBMDx study

Gene: RPL35A

Green List (high evidence)
RPL35A (ribosomal protein L35a)
EnsemblGeneIds (GRCh38): ENSG00000182899
EnsemblGeneIds (GRCh37): ENSG00000182899
OMIM: 180468, Gene2Phenotype
RPL35A is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 50 unrelated individuals reported. Large deletions common.
Created: 5 Mar 2021, 10:17 a.m. | Last Modified: 5 Mar 2021, 10:17 a.m.
Panel Version: 0.181

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 5, MIM# 612528

Publications

Created: 5 Mar 2021, 10:17 a.m.
Last Modified: 5 Mar 2021, 10:17 a.m.
Panel version: Imported from Bone Marrow Failure panel version 0.181

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0012925
  • Diamond-Blackfan anemia 5, MIM# 612528
OMIM
180468
Clinvar variants
Variants in RPL35A
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: RPL35A was added gene: RPL35A was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: RPL35A was set to Unknown Phenotypes for gene: RPL35A were set to MONDO:0012925; Diamond-Blackfan anemia 5, MIM# 612528