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Intellectual disability

Gene: TRIP13

Red List (low evidence)

TRIP13 (thyroid hormone receptor interactor 13)
EnsemblGeneIds (GRCh38): ENSG00000071539
EnsemblGeneIds (GRCh37): ENSG00000071539
OMIM: 604507, Gene2Phenotype
TRIP13 is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

I don't know

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*. To date only two cases reported with developmental delay.
Created: 18 Sep 2017, 9:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mosaic variegated aneuploidy syndrome 3 617598

Publications

Details

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

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to TRIP13.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

18 Sep 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

TRIP13 was added to Intellectual disabilitypanel. Sources: Literature

18 Sep 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TRIP13 was created by sleigh