TTBK2

tau tubulin kinase 2
OMIM: 611695, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TTBK2 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464

Green TTBK2 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.556

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green TTBK2 in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.16

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spinocerebellar ataxia 11, 604432
    • Spinocerebellar ataxia 11