Genetic Epilepsy
Gene: TRIP13

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Early-onset Wilms tumor and either aneuploidy or premature chromatid separation in cells. Some individuals described as having additional developmental features, such as microcephaly, growth retardation, or developmental delay but these are highly variable. Seizures reported in 2/6 cases. Also note 5/6 reported families had the same homozygous variant, p.Arg354X, suggestive of founder effect.
Created: 4 Sep 2020, 3 a.m. | Last Modified: 4 Sep 2020, 3 a.m.

Panel Version: 0.838

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mosaic variegated aneuploidy syndrome 3, MIM# 617598

Publications

28553959

Created: 4 Sep 2020, 3 a.m.
Last Modified: 4 Sep 2020, 3 a.m.
Panel version: 0.838

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 32473092;
- 5 patients from 4 families (including 1 consanguineous) diagnosed with primary infertility with normal menstrual cycles.
- all missense variants
Created: 6 Jul 2020, 5:41 a.m. | Last Modified: 6 Jul 2020, 5:41 a.m.

Panel Version: 0.3239

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
female infertility

Publications

PMID: 32473092

Created: 6 Jul 2020, 5:41 a.m.
Last Modified: 6 Jul 2020, 5:41 a.m.
Panel version: Imported from Mendeliome panel version 0.3239

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Mosaic variegated aneuploidy syndrome 3, MIM# 617598

Tags

founder

OMIM

604507

Clinvar variants

Variants in TRIP13

Penetrance

None

Publications

28553959

Panels with this gene