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  3. RPS15A
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Fetal anomalies

Gene: RPS15A

Red List (low evidence)
RPS15A (ribosomal protein S15a)
EnsemblGeneIds (GRCh38): ENSG00000134419
EnsemblGeneIds (GRCh37): ENSG00000134419
OMIM: 603674, Gene2Phenotype
RPS15A is in 1 panel

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

Esther Kinning (NHS Greater Glasgow and Clyde)

Red List (low evidence)

[consistency check - other Diamond Blackfan genes are on panel], Red on Australian panel, only one family reported.
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 20, OMIM:618313

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
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Diamond-Blackfan anemia 20, OMIM:618313
OMIM
603674
Clinvar variants
Variants in RPS15A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: RPS15A was added gene: RPS15A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS15A were set to 27909223 Phenotypes for gene: RPS15A were set to Diamond-Blackfan anemia 20, OMIM:618313