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Intellectual disability syndromic and non-syndromic

Gene: TLK2

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Reijnders 2018: 4 frameshift, 10 nonsense (including 2 located in the last exon), 12 canonical splice-site, and 9 missense (mostly within catalytic domain). Coe 2017: 5 de novo missense in a cohort of ASD, ID and dev delay patients Heyne 2018: 5 de novo missense with NDD (4 w/out epilepsy, 1 w/ epilepsy) Lelieveld 2016: 3 variants in the catalytic domain Gulsuner 2013: 'Damaging' de novo missense present in schizophrenia patient Töpf 2020: homozygous TLK2 missense variant found in a patient with more severe symptoms than previously described. Both parents are heterozygous and unaffected clinically. Bi-allelic severe neurodevelopmental phenotype also observed internally (VCGS).
Created: 21 Apr 2020, 12:41 a.m. | Last Modified: 21 Apr 2020, 12:41 a.m.
Panel Version: 0.2555

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Intellectual disability, MIM 618050; Neurodevelopmental disease

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Intellectual disability, MIM 618050
  • Neurodevelopmental disease
OMIM
608439
Clinvar variants
Variants in TLK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tlk2 has been classified as Green List (High Evidence).

21 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TLK2 were changed from to Intellectual disability, MIM 618050; Neurodevelopmental disease

21 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TLK2 were set to

21 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TLK2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TLK2 was added gene: TLK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TLK2 was set to Unknown