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Fetal anomalies

Gene: PDCD2

Amber List (moderate evidence)
PDCD2 (programmed cell death 2)
EnsemblGeneIds (GRCh38): ENSG00000071994
EnsemblGeneIds (GRCh37): ENSG00000071994
OMIM: 600866, Gene2Phenotype
PDCD2 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Soo-Mi Park (Cambridge University Hospital NHS Foundation Trust)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
PMID 40208938 - NIHF affected fetuses; 3 from one family, 2 from a second unrelated family, were found to be bi-allelic for very rare PDCD2 missense variants (one variant was homozygous in family 1 and was also present with a different variant in family 2). Functional evidence was provided demonstrating reduced protein levels, reduction its ability to bind the ribosomal protein uS5 and impaired rRNA processing. The NIHF phenotype was demonstrated in a Xenopus model.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hydrops fetalis and early pregnancy loss

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • hydrops fetalis and early pregnancy loss
OMIM
600866
Clinvar variants
Variants in PDCD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: PDCD2 was added gene: PDCD2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: PDCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDCD2 were set to 40208938 Phenotypes for gene: PDCD2 were set to hydrops fetalis and early pregnancy loss