Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: TDP2

No list

TDP2 (tyrosyl-DNA phosphodiesterase 2)
EnsemblGeneIds (GRCh38): ENSG00000111802
EnsemblGeneIds (GRCh37): ENSG00000111802
OMIM: 605764, Gene2Phenotype
TDP2 is in 5 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least 6 individuals from 4 unrelated families reported.
Sources: Expert list
Created: 13 Sep 2020, 7:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 23, 616949

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 23, 616949
OMIM
605764
Clinvar variants
Variants in TDP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: TDP2 was added gene: TDP2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TDP2 were set to 24658003; 30109272; 31410782 Phenotypes for gene: TDP2 were set to Spinocerebellar ataxia, autosomal recessive 23, 616949 Review for gene: TDP2 was set to GREEN gene: TDP2 was marked as current diagnostic