Early onset or syndromic epilepsy
Gene: TNK2
A single case was reported in PMID 23686771 with infantile onset focal seizuresCreated: 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
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.
Three families reported in the literature.Created: 22 Aug 2018, 5:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EE
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to TNK2.
Source NHS GMS was added to TNK2.
Zornitza Stark: Three families reported in the
Gene: tnk2 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: TNK2.
Gene: tnk2 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: TNK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNK2 were changed from to severe autosomal recessive infantile onset epilepsy; EE
Publications for gene: TNK2 were set to
Expert Review Amber was added to TNK2. Panel: Genetic Epilepsy Syndromes
TNK2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
TNK2 was created by Sarah Leigh