Rebecca Foulger edited their review of gene: TNK2: Added comment: 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. ; Changed rating: AMBER
Rebecca Foulger Added comment: 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.
Rebecca Foulger commented on gene: TNK2: 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.