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  3. TLK2
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Genetic Epilepsy

Gene: TLK2

Amber List (moderate evidence)
TLK2 (tousled like kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000146872
EnsemblGeneIds (GRCh37): ENSG00000146872
OMIM: 608439, Gene2Phenotype
TLK2 is in 6 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

Seizures (13%) in OMIM

PMID: 37662408 - NOT PEER REVIEWED. Patient presenting with ID, seizures, global developmental delay, hypothyroidism, and primary immunodeficiency. De novo missense found, but also another de novo PTC in MDM1. Functional studies support missense pathogenicity

PMID: 31558842 - HOM missense patient with a severe neurodev disorder, parents are clinically unaffected. She presented with epileptic spasms at the age of 6 months. Her EEG showed hypsarrhythmia suggesting West syndrome. She has been seizure-free since 3 years of age.
Sources: Literature
Created: 15 Feb 2024, 12:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Intellectual developmental disorder, autosomal dominant 57 MIM#618050

Publications

Created: 15 Feb 2024, 12:50 a.m.

Panel version: 0.2287

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 57 MIM#618050
OMIM
608439
Clinvar variants
Variants in TLK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Feb 2024, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: tlk2 has been classified as Amber List (Moderate Evidence).

15 Feb 2024, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: tlk2 has been classified as Amber List (Moderate Evidence).

15 Feb 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

gene: TLK2 was added gene: TLK2 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: TLK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TLK2 were set to 37662408; 31558842 Phenotypes for gene: TLK2 were set to Intellectual developmental disorder, autosomal dominant 57 MIM#618050 Review for gene: TLK2 was set to AMBER