Wilms Tumour
Gene: TRIP13EnsemblGeneIds (GRCh38): ENSG00000071539
EnsemblGeneIds (GRCh37): ENSG00000071539
OMIM: 604507, Gene2Phenotype
TRIP13 is in 8 panels
1 review
Chirag Patel (Genetic Health Queensland)
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, LiteratureCreated: 26 Sep 2024, 12:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilms tumor, MONDO:0006058; Mosaic variegated aneuploidy syndrome 3, MONDO:0054736; Mosaic variegated aneuploidy syndrome 3, MIM#617598
Publications
- PMID: 28553959
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Expert Review
- Expert list
- Phenotypes
-
- Wilms tumor, MONDO:0006058
- Mosaic variegated aneuploidy syndrome 3, MONDO:0054736
- Mosaic variegated aneuploidy syndrome 3, MIM#617598
- OMIM
- 604507
- Clinvar variants
- Variants in TRIP13
- Penetrance
- None
- Publications
-
- PMID: 28553959
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trip13 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: trip13 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)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