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Genetic Epilepsy

Gene: TNK2

Amber List (moderate evidence)

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

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

I don't know

No phenotype provided in OMIM

Single de novo report of Mayer-Rokitansky-Küster-Hauser syndrome

2 unrelated patients reported with chet variants (3 missense, 1 PTC) with late onset infantile epilepsy. pREC = 0.99 supports a recessive mode of inheritance.

Additional report in Hitomi (2013) is questionable due to this variant being present in 6 homozygotes in gnomAD, and is currently a VUS in OMIM. Therefore the functional studies on this variant are also unusable.
Created: 30 Apr 2020, 11:38 p.m. | Last Modified: 30 Apr 2020, 11:38 p.m.
Panel Version: 0.2680

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
late onset infantile epilepsy; Mayer-Rokitansky-Küster-Hauser syndrome

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three unrelated families reported, however report in Hitomi (2013) is questionable due to this variant being present in 6 homozygotes in gnomAD,
Created: 25 Jan 2020, 9:18 a.m. | Last Modified: 1 May 2020, 12:21 a.m.
Panel Version: 0.689

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
severe infantile onset epilepsy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • severe infantile onset epilepsy
OMIM
606994
Clinvar variants
Variants in TNK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnk2 has been classified as Green List (High Evidence).

25 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNK2 were changed from to severe infantile onset epilepsy

25 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TNK2 were set to

25 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TNK2 was added gene: TNK2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TNK2 was set to Unknown