1. Panels
  2. Craniosynostosis
  3. TLK2
STRs in panel
Prev Next
Regions in panel
Prev Next

Craniosynostosis

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

Bryony Thompson (Royal Melbourne Hospital)

I don't know

In a cohort of 38 cases, 4 unrelated cases (11%) had craniosynostosis as a feature of the condition. It doesn't appear to be a prominent feature of the condition.
Created: 4 Jun 2020, 2:09 a.m. | Last Modified: 4 Jun 2020, 2:09 a.m.
Panel Version: 0.37

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 57 MIM#618050

Publications

Created: 4 Jun 2020, 2:09 a.m.
Last Modified: 4 Jun 2020, 2:09 a.m.
Panel version: 0.37

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 57, MIM#618050
OMIM
608439
Clinvar variants
Variants in TLK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TLK2 were changed from to Mental retardation, autosomal dominant 57, MIM#618050

3 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TLK2 were set to

3 Jul 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TLK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

3 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 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 Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TLK2 was set to Unknown