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Fetal anomalies

Gene: TRIM28

Red List (low evidence)
TRIM28 (tripartite motif containing 28)
EnsemblGeneIds (GRCh38): ENSG00000130726
EnsemblGeneIds (GRCh37): ENSG00000130726
OMIM: 601742, Gene2Phenotype
TRIM28 is in 3 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

Louise Carr (North Thames Genomic Medicine Service)

Red List (low evidence)

New Omim entry (OMIM:621332, n=5) which gives evidence that susceptibility to Wilms tumor-7 is conferred by heterozygous mutation in TRIM28 gene. Two families were reported (PMID:29912901), one family consisted of a brother a sister, they had an onset of 39 and 8 months respectively and both had the same frameshift variant (c.525_526del p.(Glu175Aspfs*29) with LOH in tumour). The mother carried the same mutation but did not have childhood cancer, suggesting incomplete penetrance. Second family was a mother and 2 children affected by Wilms tumour. Male child diagnosed at 8 months with stage 1 monomorphic epithelial Wilms tumour who was alive without recurrence at 30 years old. His sister diagnosed at 5 months old with stage 1 monomorphic epithelial Wilms tumour who was alive at 29 years old. These tumours showed LOH with retention of the mutant allele frameshift variant c.1746_1747delinsC was detected in the blood of the mother and in the tumour from the children (these cases were also reported in PMID: 9690521). A further study (PMID:30694527, n=9), two families with two affected individuals with Wilms tumour with truncating TRIM28 tumours. In family 1 two siblings had a heterozygous c.246_247del variants predicted to cause a frameshift and premature stop codon. Second family, two brothers had a heterozygous frameshift aberration c.1562_1569dup which was predicted to result in a premature termination codon. In both families the variants were maternally inherited and both mothers were unaffected. Family 2 mother the variant was confirmed to be de novo. The tumours were bilateral in 6 patients, and 10/11 tumours are accompanied by perilobar nephrogenic rests. 6 individuals showed LOH of the TRIM28 locus. A further study (PMID:30885698, n=15), 10 of these cases had been inherited and in all of these it was maternally inherited. No prenatal presentation
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
Wilms tumor 7, OMIM:621332; Wilms tumor 7, MONDO:0979876

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
  • Wilms tumor 7, OMIM:621332
  • Wilms tumor 7, MONDO:0979876
OMIM
601742
Clinvar variants
Variants in TRIM28
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: TRIM28 was added gene: TRIM28 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRIM28 were set to 29912901; 30885698; 30694527 Phenotypes for gene: TRIM28 were set to Wilms tumor 7, OMIM:621332; Wilms tumor 7, MONDO:0979876