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  3. PEG10
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Fetal anomalies

Gene: PEG10

Amber List (moderate evidence)
PEG10 (paternally expressed 10)
EnsemblGeneIds (GRCh38): ENSG00000242265
EnsemblGeneIds (GRCh37): ENSG00000242265
OMIM: 609810, Gene2Phenotype
PEG10 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

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

I don't know

Only one family reported - deletion including PEG10 and SGCE, although PEG10 more plausible candidate. No evidence for SNVs as yet, although SNVs in CDKN1C are a cause of BWS, so one to watch?
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, maternally imprinted (paternal allele expressed)

Phenotypes
Silver-Russell syndrome, MONDO:0008394

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, maternally imprinted (paternal allele expressed)
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Silver-Russell syndrome, MONDO:0008394
OMIM
609810
Clinvar variants
Variants in PEG10
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: PEG10 was added gene: PEG10 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PEG10 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: PEG10 were set to 41429883 Phenotypes for gene: PEG10 were set to Silver-Russell syndrome, MONDO:0008394