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Newborns main panel

Gene: TRIM28

Green List (high evidence)
TRIM28 (tripartite motif containing 28)
EnsemblGeneIds (GRCh38): ENSG00000130726
EnsemblGeneIds (GRCh37): ENSG00000130726
OMIM: 601742, Gene2Phenotype
TRIM28 is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://www.nature.com/articles/nrc3139 and PMID: 30885698 - 21 cases with maternal parent-of-origin event https://www.ejcancer.com/article/S0959-8049(21)00322-1/fulltext
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • TRIM28 related Wilms tumour predisposition
OMIM
601742
Clinvar variants
Variants in TRIM28
Penetrance
None
Panels with this gene

History Filter Activity

6 Feb 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TRIM28 were changed from TRIM28 related Wilms tumor to TRIM28 related Wilms tumour predisposition

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes TRIM28 related Wilms tumor for gene: TRIM28

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to TRIM28. Added phenotypes TRIM28 related Wilms tumor for gene: TRIM28 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: TRIM28 was added gene: TRIM28 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TRIM28 were set to TRIM28 related Wilms tumor