Childhood solid tumours
Gene: TRIM28
Inactivating TRIM28 mutations segregate with Wilms tumour and non-familial Wilms tumour in multiple studies - PMID 29912901 (N=5); PMID: 30694527 (N=9); PMID: 30885698 (N=15); LOH in tumour observed; TRIM28-mutated tumours associated with epithelial-type Wilms tumour histology; suggested maternal transmission.Created: 12 Aug 2019, 8:16 a.m. | Last Modified: 12 Aug 2019, 8:16 a.m.
Panel Version: 1.32
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial Wilms tumor; Wilms tumor
Publications
TRIM28 is not associated with any phenotype on OMIM or Gene2Phenotype. There are >3 unrelated cases of patients who have Wilms tumour who are heterozygous for different variants in TRIM28. The variant segregated with the disease in the families and the tumour is homozygous for the variants. Therefore there is enough evidence for this gene to be green.Created: 9 Aug 2019, 12:50 p.m. | Last Modified: 9 Aug 2019, 12:50 p.m.
Panel Version: 1.32
Publications
Tag gene-checked tag was added to gene: TRIM28.
Mode of inheritance for gene: TRIM28 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRIM28 were changed from Wilms tumour to Familial Wilms tumor; Wilms tumour
gene: TRIM28 was added gene: TRIM28 was added to Tumour predisposition - childhood onset. Sources: Expert Review Green,Expert list Mode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRIM28 were set to 29912901; 30694527; 30885698 Phenotypes for gene: TRIM28 were set to Wilms tumour