Childhood solid tumours
Gene: TRIP13
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mosaic variegated aneuploidy syndrome 3 617598
Associated with phenotype in OMIM, not in G2P. At least 2 variants reported, c.1060C>T, (NM_004237), p.R354* in 5 apparently unrelated patients of Pakistani or Asian origin (haplotype analysis not performed) and c.673-1G>C (NM_004237) in a 2.5 year old Norwegian girl. Supportive functional studies were presented for p.R354*.Created: 21 Aug 2017, 1:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mosaic variegated aneuploidy syndrome 3 617598
Publications
Source NHS GMS was added to TRIP13. Added phenotypes Mosaic variegated aneuploidy syndrome 3 617598 for gene: TRIP13
Source Expert List was added to TRIP13. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
TRIP13 was added to Paediatric congenital malformation-dysmorphism-tumour syndromespanel. Sources: Literature
TRIP13 was created by sleigh