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  3. RPL18
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Fetal anomalies

Gene: RPL18

Amber List (moderate evidence)
RPL18 (ribosomal protein L18)
EnsemblGeneIds (GRCh38): ENSG00000063177
EnsemblGeneIds (GRCh37): ENSG00000063177
OMIM: 604179, Gene2Phenotype
RPL18 is in 4 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Louise Carr (North Thames Genomic Medicine Service)

I don't know

(28280134) father and son with Diamond-blackfan anemia-18 identified a heterozygous mutation in the RPL18 gene (g.49120619 T>C, p.L51S) substitution. Analysis of pre-rRNA processing in patient cells showed an increase in the 36S subunit compared to controls, indicating a defect in pre-rRNA processing (not technically functional work but additional evidence of pathogenicity of the variant). Functional in vivo work has been completed and reported in (32075953), they generated a rpl18 mutant line in zebrafish, using crispr/cas9 system. They mirrored the erythroid defects of DBA, i.e. lack of red blood cells. RPL18 deficiency caused an increase in p53 activation and JAK2-STAT3 activity. Waiting for more cases.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 18, OMIM:618310

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Diamond-Blackfan anemia 18, OMIM:618310
OMIM
604179
Clinvar variants
Variants in RPL18
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: RPL18 was added gene: RPL18 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL18 were set to 32075953; 28280134 Phenotypes for gene: RPL18 were set to Diamond-Blackfan anemia 18, OMIM:618310