1. Genes and Genomic Entities
  2. TLK2

TLK2

tousled like kinase 2
OMIM: 608439, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber TLK2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 57, OMIM:618050
Green TLK2 in Rare syndromic craniosynostosis or isolated multisuture synostosis


Level 2: Musculoskeletal
Version 6.3
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, autosomal dominant 57, OMIM:618050
  • Mental retardation, autosomal dominant 57, MONDO:0054837
Green TLK2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • TLK2 syndrome
    Green TLK2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.281
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Mental retardation, autosomal dominant 57, OMIM:618050
    • Mental retardation, autosomal dominant 57, MONDO:0054837