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| Wilms Tumour v0.40 | REST | Zornitza Stark Marked gene: REST as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wilms Tumour v0.40 | REST | Zornitza Stark Gene: rest 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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| Wilms Tumour v0.23 | REST | Chirag Patel Classified gene: REST as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wilms Tumour v0.23 | REST | Chirag Patel Gene: rest has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wilms Tumour v0.22 | REST |
Chirag Patel gene: REST was added gene: REST was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: REST were set to PMID: 26551668 Phenotypes for gene: REST were set to Wilms tumor, MONDO:0006058; Wilms tumor 6, MONDO:0014779; Wilms tumor 6, susceptibility to, MIM#616806 Review for gene: REST was set to GREEN Added comment: Evidence for gene-disease association for Wilms tumour. 11 different inactivating mutations in the REST gene in 4 familial Wilms tumor pedigrees and 9 non-familial cases. All variants were absent from ICR1000 control series and ExAC series. A second mutational event was found in two tumors, suggesting that REST may act as a tumor-suppressor gene in Wilms tumor pathogenesis. Ten of 11 mutations clustered within the portion of REST encoding the DNA-binding domain, and functional analyses showed that these mutations compromise REST transcriptional repression. Sources: Expert list, Expert Review, Literature |
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| Wilms Tumour v0.20 | TRIP13 |
Chirag Patel gene: TRIP13 was added gene: TRIP13 was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIP13 were set to PMID: 28553959 Phenotypes for gene: TRIP13 were set to Wilms tumor, MONDO:0006058; Mosaic variegated aneuploidy syndrome 3, MONDO:0054736; Mosaic variegated aneuploidy syndrome 3, MIM#617598 Review for gene: TRIP13 was set to GREEN Added comment: Wilms tumour reported in condition. 6 unrelated patients with MVA3 with early-onset Wilms tumour, and homozygous truncating mutations in the TRIP13 gene. Cells derived from patients with the R354X mutation showed chromosomal instability, including aneuploidy, premature chromatid separation, lagging chromosomes, and chromosome bridges. Mutant cells showed increased mitotic exit and impaired recruitment of MAD2 to unattached kinetochores, indicating severe disruption of the spindle assembly checkpoint. These defects could be restored with wildtype TRIP13. The mutant protein was unable to rescue spindle assembly checkpoint defects in a cell line with CRISPR-Cas9-mediated knockdown of TRIP13, consistent with a loss of function. Sources: Expert list, Expert Review, Literature |
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