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  3. TRIP13
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Childhood solid tumours

Gene: TRIP13

Green List (high evidence)
TRIP13 (thyroid hormone receptor interactor 13)
EnsemblGeneIds (GRCh38): ENSG00000071539
EnsemblGeneIds (GRCh37): ENSG00000071539
OMIM: 604507, Gene2Phenotype
TRIP13 is in 8 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green
Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Created: 2 Aug 2019, 11:03 a.m.
Last Modified: 2 Aug 2019, 11:03 a.m.
Panel version: 1.27

Lara Hawkes (Genomics England)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mosaic variegated aneuploidy syndrome 3 617598

Created: 30 Jan 2019, 11:20 a.m.

Panel version: 1.23

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Created: 21 Aug 2017, 1:46 p.m.

Panel version: 1.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Literature
Phenotypes
  • Mosaic variegated aneuploidy syndrome 3 617598
  • Mosaic variegated aneuploidy syndrome 3 617598
OMIM
604507
Clinvar variants
Variants in TRIP13
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TRIP13. Added phenotypes Mosaic variegated aneuploidy syndrome 3 617598 for gene: TRIP13

30 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert List was added to TRIP13. Rating Changed from Green List (high evidence) to Green List (high evidence)

21 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Aug 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

TRIP13 was added to Paediatric congenital malformation-dysmorphism-tumour syndromespanel. Sources: Literature

21 Aug 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TRIP13 was created by sleigh