Early onset or syndromic epilepsy

Gene: TNK2

I don't know

A single case was reported in PMID 23686771 with infantile onset focal seizures

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
autosomal recessive infantile onset epilepsy

Publications

• 23686771

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

Added 'watchlist' tag.

Created: 8 Nov 2018, 9:41 a.m.

Comment on list classification: Kept rating as Amber: 3 unrelated families reported in total: 3 siblings from PMID:23686771, and 2 further cases from PMID:27977884. However, the V716M variant from PMID:23686771 is classed as VUS in OMIM. And little information is given about the compound het variants from PMID:27977884. Therefore Amber rating awaiting further cases.

Created: 8 Nov 2018, 9:41 a.m.

PMID:27977884 (Mao et al. 2017) report 2 further seizure patients with TNK2 variants. Patient A is a 20 month old non-dysmorphic girl of healthy non-consanguineous parents. At 13 months of age, she started to have spasm seizures. A pair of compound heterozygote variants in TNK2 (c.2860 G>T, c.3004 G>T) was found and verified by Sanger sequencing. Patient B is an 18 month old girl and the 2nd of 3 children of healthy parents. At the age of 11 months she exhibited seizure activity characterized by cluster of spasm. Sequencing found a pair of compound heterozygote variants in TNK2 (c.1705 A>G, c.2243 G>A) which were verified by Sanger sequencing. No further information on the variants (including protein information) was given.

Created: 8 Nov 2018, 9:39 a.m.

In 3 sibs, born of unrelated Belgian Italian parents, with infantile-onset focal seizures followed by delayed psychomotor development, Hitomi et al. (PMID:23686771, 2013) identified a homozygous c.2146G-T transversion in exon 13 of the TNK2 gene (V716M). In OMIM this variant is classified as VUS.

Created: 8 Nov 2018, 9:39 a.m.

Green List (high evidence)

Three families reported in the literature.

Created: 22 Aug 2018, 5:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
EE

Publications

• 23686771

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