Early onset or syndromic epilepsy
Gene: TRIP13
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 seizuresCreated: 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
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.
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
Tag founder-effect was removed from gene: TRIP13.
Tag founder-effect tag was added to gene: TRIP13.
Source Wessex and West Midlands GLH was added to TRIP13.
Source NHS GMS was added to TRIP13.
Zornitza Stark: Phenotype is highly variable b
Gene: trip13 has been classified as Amber List (Moderate Evidence).
Gene: trip13 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, 617598
Tag watchlist tag was added to gene: TRIP13.
Mode of inheritance for gene: TRIP13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to TRIP13. Panel: Genetic Epilepsy Syndromes
TRIP13 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
TRIP13 was created by Sarah Leigh