IBMDx study
Gene: RPL26

RPL26 (ribosomal protein L26)
EnsemblGeneIds (GRCh38): ENSG00000161970
EnsemblGeneIds (GRCh37): ENSG00000161970
OMIM: 603704, Gene2Phenotype
RPL26 is in 8 panels

2 reviews

vahid pazhakh (Peter MacCallum Cancer Centre)

I don't know

A heterozygous de novo 2-bp deletion (120delGA) was identified in exon 2 of the RPL26 gene in a 3.5-year-old girl with Diamond-Blackfan anemia 11, predicted to cause a frameshift resulting in a truncated 51-amino acid protein [PMID: 22431104]. In vitro cellular studies support the role of rpl26 in pre-rRNA maturation.
Created: 9 Feb 2022, 11:49 p.m. | Last Modified: 9 Feb 2022, 11:49 p.m.

Panel Version: 0.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 11, MIM# 614900

Publications

Publications (PMID: 22431104)

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 9 Feb 2022, 11:49 p.m.
Last Modified: 9 Feb 2022, 11:49 p.m.
Panel version: 0.2

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single reported individual.
Sources: Expert list
Created: 2 Mar 2020, 2:20 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 11, MIM# 614900

Publications

22431104

Created: 2 Mar 2020, 2:20 a.m.

Panel version: Imported from Bone Marrow Failure panel version 0.37

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
IBMDx Study
Expert list

Phenotypes

Diamond-Blackfan anemia 11, MIM# 614900

OMIM

603704

Clinvar variants

Variants in RPL26

Penetrance

None

Publications

22431104

Panels with this gene