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  3. RPS28
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Fetal anomalies

Gene: RPS28

Amber List (moderate evidence)
RPS28 (ribosomal protein S28)
EnsemblGeneIds (GRCh38): ENSG00000233927
EnsemblGeneIds (GRCh37): ENSG00000233927
OMIM: 603685, Gene2Phenotype
RPS28 is in 9 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

Natalie Canham (Liverpool Women's Hospital)

Green List (high evidence)

[consistency check - other Diamond Blackfan genes are on panel] associated with a phenotype likely to be identified antenatally, two papers, large numbers of unrelated individuals (some non-penetrance)
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 15 with mandibulofacial dysostosis, OMIM:606164; Diamond-Blackfan anemia 15 with mandibulofacial dysostosis, MONDO:0011639

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 15 with mandibulofacial dysostosis, OMIM:606164
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis, MONDO:0011639
OMIM
603685
Clinvar variants
Variants in RPS28
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: RPS28 was added gene: RPS28 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS28 were set to 40135709; 24942156 Phenotypes for gene: RPS28 were set to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, OMIM:606164; Diamond-Blackfan anemia 15 with mandibulofacial dysostosis, MONDO:0011639