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Early onset or syndromic epilepsy v1.191 TNK2 Rebecca Foulger Source Wessex and West Midlands GLH was added to TNK2.
Early onset or syndromic epilepsy v1.190 TNK2 Rebecca Foulger Source NHS GMS was added to TNK2.
Early onset or syndromic epilepsy v1.189 TNK2 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
Early onset or syndromic epilepsy v1.188 TNK2 Tracy Lester reviewed gene: TNK2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23686771; Phenotypes: autosomal recessive infantile onset epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger Marked gene: TNK2 as ready
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger Gene: tnk2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger commented on gene: TNK2: Added 'watchlist' tag.
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger Tag watchlist tag was added to gene: TNK2.
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger Classified gene: TNK2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.636 TNK2 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.
Early onset or syndromic epilepsy v0.636 TNK2 Rebecca Foulger Gene: tnk2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.635 TNK2 Rebecca Foulger Mode of inheritance for gene: TNK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.634 TNK2 Rebecca Foulger Phenotypes for gene: TNK2 were changed from to severe autosomal recessive infantile onset epilepsy; EE
Early onset or syndromic epilepsy v0.633 TNK2 Rebecca Foulger Publications for gene: TNK2 were set to
Early onset or syndromic epilepsy v0.632 TNK2 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.
Early onset or syndromic epilepsy v0.632 TNK2 Rebecca Foulger commented on gene: TNK2
Early onset or syndromic epilepsy TNK2 Zornitza Stark reviewed gene: TNK2
Early onset or syndromic epilepsy TNK2 Zornitza Stark reviewed gene: TNK2
Early onset or syndromic epilepsy TNK2 Sarah Leigh Added gene to panel