Genomics England
GMS Panels
Panels
Genes and Entities

TDP1

tyrosyl-DNA phosphodiesterase 1
OMIM: 607198
PanelMode of inheritanceDetails
2 panels
Green
in Hereditary ataxia with onset in adulthood
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250, spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, MONDO:0011801