TDP1:Ensemblv115

tyrosyl-DNA phosphodiesterase 1
OMIM: 607198, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber TDP1 in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Amber
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 2.0

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