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| Wilms Tumour v0.40 | TRIP13 | Zornitza Stark Marked gene: TRIP13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wilms Tumour v0.40 | TRIP13 | Zornitza Stark Gene: trip13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wilms Tumour v0.21 | TRIP13 | Chirag Patel Classified gene: TRIP13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wilms Tumour v0.21 | TRIP13 | Chirag Patel Gene: trip13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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