1. Panels
  2. Fetal anomalies
  3. RPS29
Genes in panel
Prev Next

Fetal anomalies

Gene: RPS29

Amber List (moderate evidence)
RPS29 (ribosomal protein S29)
EnsemblGeneIds (GRCh38): ENSG00000213741
EnsemblGeneIds (GRCh37): ENSG00000213741
OMIM: 603633, Gene2Phenotype
RPS29 is in 8 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 Chandler (North Thames GLH)

I don't know

Green on rare anaemia panel in UK, amber in all panel in panelapp aus - comment that only two patients reported in 2014 with incmplete penetrance and no newer reports. All missense variants. There have been a couple of other papers since this all reporting mild phenotype and missense variant. Not convincing evidence fo this gene given the age of the original paper. Suggest amber.
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 13, MONDO:0014394; Diamond-Blackfan anemia 13, OMIM:615909

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 13, MONDO:0014394
  • Diamond-Blackfan anemia 13, OMIM:615909
OMIM
603633
Clinvar variants
Variants in RPS29
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: RPS29 was added gene: RPS29 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RPS29 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS29 were set to 39691264; 24829207 Phenotypes for gene: RPS29 were set to Diamond-Blackfan anemia 13, MONDO:0014394; Diamond-Blackfan anemia 13, OMIM:615909