Early onset or syndromic epilepsy
Gene: TSEN2
AR pontocerebellar hypoplasia type 2B. Seizures are a feature in some individuals. Only 4 reported variants on OMIM and HGMD Pro. Don't think any functional work done.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
Pontocerebellar hypoplasia type 2B, 612389
Publications
As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene should be rated Amber because epilepsy is unlikely to be the primary presenting feature. Demoted from Green to Amber.Created: 15 Aug 2019, 10:09 a.m. | Last Modified: 15 Aug 2019, 10:09 a.m.
Panel Version: 1.230
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: John Taylor and Helen Lord. 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: Updated rating from Amber to Green: Seizures are a clinical symptom of Pontocerebellar hypoplasia in some cases, and three patients with seizures and TSEN2 variants reported (PMID:23562994, 20952379).Created: 3 Nov 2018, 11:23 a.m.
Comment on phenotypes: Have updated phenotype to match OMIM. According to OMIM, MIM:617026 ( Pontocerebellar hypoplasia, type 2F) is caused by variants in TSEN15.Created: 3 Nov 2018, 11:21 a.m.
Seizures are part of the phenotype of this brain development disorder.Created: 22 Aug 2018, 7:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 2F, MIM#617026
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: tsen2 has been classified as Amber List (Moderate Evidence).
Gene: tsen2 has been classified as Amber List (Moderate Evidence).
Source Wessex and West Midlands GLH was added to TSEN2.
Source NHS GMS was added to TSEN2.
Zornitza Stark: Seizures are part of the pheno
Gene: tsen2 has been classified as Green List (High Evidence).
Gene: tsen2 has been classified as Green List (High Evidence).
Phenotypes for gene: TSEN2 were changed from to Pontocerebellar hypoplasia type 2B, 612389
Mode of inheritance for gene: TSEN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to TSEN2. Panel: Genetic Epilepsy Syndromes
TSEN2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
TSEN2 was created by Sarah Leigh