Early onset or syndromic epilepsy
Gene: TSEN34
Possible association with pontocerebellar hypoplasiaCreated: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
Unknown
Phenotypes
?Pontocerebellar hypoplasia type 2C, 612390
Publications
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
Added 'watchlist' tag for alerts on additional cases.Created: 8 Nov 2018, 9:29 a.m.
Comment on list classification: Kept rating as Amber. Probable DD-G2P gene for PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4. One PCH2 patient with seizures and TSEN34 variant reported in PMID:20952379 (probably the same patient as from PMID:18711368/Budde et al 2008).Created: 8 Nov 2018, 9:28 a.m.
PMID:20952379 (Namavar et al 2011) report one PCH2 patient with a p.R58W variant in TSEN34 and epileptic seizures.Created: 3 Nov 2018, 12:07 p.m.
Single family reportedCreated: 22 Aug 2018, 7:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 2C, MIM#612390
Source Wessex and West Midlands GLH was added to TSEN34.
Source NHS GMS was added to TSEN34.
Zornitza Stark: Single family reported
Gene: tsen34 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: TSEN34.
Gene: tsen34 has been classified as Amber List (Moderate Evidence).
Publications for gene: TSEN34 were set to 18711368
Mode of inheritance for gene: TSEN34 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSEN34 were set to
Phenotypes for gene: TSEN34 were changed from to ?Pontocerebellar hypoplasia type 2C, 612390
Expert Review Amber was added to TSEN34. Panel: Genetic Epilepsy Syndromes
TSEN34 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
TSEN34 was created by Sarah Leigh