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  2. Early onset or syndromic epilepsy
  3. TRIP13
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Early onset or syndromic epilepsy

Gene: TRIP13

Amber List (moderate evidence)
TRIP13 (thyroid hormone receptor interactor 13)
EnsemblGeneIds (GRCh38): ENSG00000071539
EnsemblGeneIds (GRCh37): ENSG00000071539
OMIM: 604507, Gene2Phenotype
TRIP13 is in 7 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

recently, biallelelic variants have been reported to predispose to Wilms tumours.PMID 28553959 reports 6 probands with Wilms tumour, and two of these cases had seizures
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mosaic variegated aneuploidy syndrome 3, 617598

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on list classification: Kept rating as Amber: 2 patients with seizures and TRIP13 variants reported in Yost et al., 2017 (PMID:28553959). Further cases needed for inclusion on diagnostic panel.
Created: 3 Nov 2018, 11:26 a.m.
Added 'watchlist' tag.
Created: 3 Nov 2018, 11:25 a.m.
Created: 3 Nov 2018, 11:25 a.m.

Panel version: 1.189

Zornitza Stark (Australian Genomics)

I don't know

Phenotype is highly variable but seizures reported in 2/6 cases. Note 5/6 families had the same homozygous variant, p.Arg354X, suggestive of founder effect.
Created: 22 Aug 2018, 6:58 a.m. | Last Modified: 4 Sep 2020, 2:58 a.m.
Panel Version: 2.148

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mosaic variegated aneuploidy syndrome 3, MIM#617598

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Aug 2018, 6:58 a.m.
Last Modified: 4 Sep 2020, 2:58 a.m.
Panel version: 2.148

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mosaic variegated aneuploidy syndrome 3, 617598
Tags
watchlist
OMIM
604507
Clinvar variants
Variants in TRIP13
Penetrance
None
Panels with this gene

History Filter Activity

17 Jan 2024, Gel status: 2

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag founder-effect was removed from gene: TRIP13.

17 Jan 2024, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag founder-effect tag was added to gene: TRIP13.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to TRIP13.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to TRIP13.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Phenotype is highly variable b

3 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: trip13 has been classified as Amber List (Moderate Evidence).

3 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: trip13 has been classified as Amber List (Moderate Evidence).

3 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, 617598

3 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: TRIP13.

3 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: TRIP13 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to TRIP13. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TRIP13 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

TRIP13 was created by Sarah Leigh