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| Wilms Tumour v0.40 | TRIM28 | Zornitza Stark Marked gene: TRIM28 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wilms Tumour v0.40 | TRIM28 | Zornitza Stark Gene: trim28 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wilms Tumour v0.25 | TRIM28 | Chirag Patel Classified gene: TRIM28 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wilms Tumour v0.25 | TRIM28 | Chirag Patel Gene: trim28 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wilms Tumour v0.24 | TRIM28 |
Chirag Patel gene: TRIM28 was added gene: TRIM28 was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature Mode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRIM28 were set to PMID: 29912901, 30694527, 30885698, 33565090 Phenotypes for gene: TRIM28 were set to Wilms tumor, MONDO:0006058; Wilms tumor predisposition, no MIM# Review for gene: TRIM28 was set to GREEN Added comment: Evidence for gene-disease association for Wilms tumour. Among 890 individuals with Wilms tumour, a germline TRIM28 pathogenic variant was identified in 21 affected individuals. Age of onset ranged from 5 months to 9 years. TRIM28-related Wilms tumours can be either unilateral or bilateral, predominantly have epithelial-type histology, and are frequently accompanied by nephrogenic rests. Immunohistochemistry studies show negative staining for TRIM28. With few exceptions, the reported germline variants are truncating or splice site variants located throughout the protein coding regions with evidence suggestive of a maternal parent-of-origin effect. Germline TRIM28 pathogenic variants do not appear to be associated with any phenotype other than Wilms tumour. Sources: Expert list, Expert Review, Literature |
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