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Early onset or syndromic epilepsy v4.144 TRIP13 Achchuthan Shanmugasundram Tag founder-effect was removed from gene: TRIP13.
Early onset or syndromic epilepsy v4.144 TRIP13 Achchuthan Shanmugasundram Tag founder-effect tag was added to gene: TRIP13.
Early onset or syndromic epilepsy v2.148 TRIP13 Zornitza Stark changed review comment from: Phenotype is highly variable but seizures reported in 2/6 cases.; to: 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.
Early onset or syndromic epilepsy v2.148 TRIP13 Zornitza Stark edited their review of gene: TRIP13: Changed rating: AMBER
Early onset or syndromic epilepsy v1.191 TRIP13 Rebecca Foulger Source Wessex and West Midlands GLH was added to TRIP13.
Early onset or syndromic epilepsy v1.190 TRIP13 Rebecca Foulger Source NHS GMS was added to TRIP13.
Early onset or syndromic epilepsy v1.189 TRIP13 Rebecca Foulger edited their review of gene: TRIP13: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 TRIP13 Tracy Lester reviewed gene: TRIP13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mosaic variegated aneuploidy syndrome 3, 617598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Marked gene: TRIP13 as ready
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Gene: trip13 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Classified gene: TRIP13 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Added comment: 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.
Early onset or syndromic epilepsy v0.532 TRIP13 Rebecca Foulger Gene: trip13 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.531 TRIP13 Rebecca Foulger Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, 617598
Early onset or syndromic epilepsy v0.530 TRIP13 Rebecca Foulger commented on gene: TRIP13
Early onset or syndromic epilepsy v0.530 TRIP13 Rebecca Foulger Tag watchlist tag was added to gene: TRIP13.
Early onset or syndromic epilepsy v0.530 TRIP13 Rebecca Foulger Mode of inheritance for gene: TRIP13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy TRIP13 Zornitza Stark reviewed gene: TRIP13
Early onset or syndromic epilepsy TRIP13 Sarah Leigh Added gene to panel