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Genetic epilepsy syndromes

Gene: TNK2

Amber List (moderate evidence)

TNK2 (tyrosine kinase non receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000061938
EnsemblGeneIds (GRCh37): ENSG00000061938
OMIM: 606994, Gene2Phenotype
TNK2 is in 1 panel

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

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

Rebecca Foulger (Genomics England curator)

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.

Zornitza Stark (Australian Genomics)

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • severe autosomal recessive infantile onset epilepsy
  • EE
Tags
watchlist
OMIM
606994
Clinvar variants
Variants in TNK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to TNK2.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to TNK2.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Three families reported in the

8 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tnk2 has been classified as Amber List (Moderate Evidence).

8 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: TNK2.

8 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tnk2 has been classified as Amber List (Moderate Evidence).

8 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: TNK2 was changed from to BIALLELIC, autosomal or pseudoautosomal

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TNK2 were changed from to severe autosomal recessive infantile onset epilepsy; EE

8 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: TNK2 were set to

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to TNK2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TNK2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

TNK2 was created by Sarah Leigh