Early onset or syndromic epilepsy

Gene: TSEN15

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 2F, 617026

Publications

• 25558065

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: Although Zornitza correctly notes that seizures are amongst the phenotypes of MIM:617026, there are currently insufficient published cases to support a Green rating: PMID:27392077 (Breuss et al., 2016) report three homozygous TSEN15 variants in four individuals from three families with ID and progressive microcephaly. Epilepsy is reported in 2 of the 4 cases (families I and II) only. Added 'watchlist' tag.

Created: 14 May 2019, 3:07 p.m.

Green List (high evidence)

Seizures are part of the phenotype of this brain development disorder.

Created: 22 Aug 2018, 7:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 2F, MIM#617026

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

I don't know

Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 3 homozygous variants reported in 3 unrelated cases, of which 2 display seizures.

Created: 31 Jul 2018, 4:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 2F 617026

Publications

• 25558065
• 27392077