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  3. TLK2
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Blepharophimosis

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)

Blepharophimosis is a feature.
Created: 29 Dec 2020, 7:50 a.m. | Last Modified: 29 Dec 2020, 7:50 a.m.
Panel Version: 0.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 57, MIM# 618050

Publications

Created: 29 Dec 2020, 7:50 a.m.
Last Modified: 29 Dec 2020, 7:50 a.m.
Panel version: 0.24

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • 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

29 Dec 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).

29 Dec 2020, Gel status: 3

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

29 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TLK2 were set to

29 Dec 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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