Genomics England
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Panels
Genes and Entities
TDP1
tyrosyl-DNA phosphodiesterase 1
OMIM:
607198
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Panel
Mode of inheritance
Details
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Hereditary ataxia with onset in adulthood
R-numbers:
R54
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250