TDP1

tyrosyl-DNA phosphodiesterase 1
OMIM: 607198, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber TDP1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
Tags
  • founder

Red TDP1 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.556

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250

Amber TDP1 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
    Tags
    • founder

    Amber TDP1 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.14

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
    Tags
    • founder