IBMDx study
Gene: RPL27

RPL27 (ribosomal protein L27)
EnsemblGeneIds (GRCh38): ENSG00000131469
EnsemblGeneIds (GRCh37): ENSG00000131469
OMIM: 607526, Gene2Phenotype
RPL27 is in 6 panels

2 reviews

vahid pazhakh (Peter MacCallum Cancer Centre)

I don't know

A heterozygous de novo splice site mutation (c.-2-1G>A, a putative splicing error mutation=exon skipping) in the RPL27 gene was identified in a 2-year-old girl with Diamond-Blackfan anemia-16 [PMID: 25424902]. In vitro cellular studies and zebrafish animal model (morpholino knockdown) support the role of RPL27 in the maturation of 28S and 5.8S rRNAs, and erythrocyte production.
Created: 9 Feb 2022, 11:52 p.m. | Last Modified: 9 Feb 2022, 11:52 p.m.

Panel Version: 0.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 16, MIM# 617408

Publications

Publications (PMID: 25424902)

Created: 9 Feb 2022, 11:52 p.m.
Last Modified: 9 Feb 2022, 11:52 p.m.
Panel version: 0.2

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single affected individual reported only.
Created: 5 Mar 2021, 10:03 a.m. | Last Modified: 5 Mar 2021, 10:03 a.m.

Panel Version: 0.177

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 16, MIM# 617408

Publications

25424902

Created: 5 Mar 2021, 10:03 a.m.
Last Modified: 5 Mar 2021, 10:03 a.m.
Panel version: Imported from Bone Marrow Failure panel version 0.177

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
IBMDx Study
Victorian Clinical Genetics Services

Phenotypes

Diamond-Blackfan anemia 16, MIM# 617408

OMIM

607526

Clinvar variants

Variants in RPL27

Penetrance

None

Publications

25424902

Panels with this gene