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  3. TDP2
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Ataxia - paediatric

Gene: TDP2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 6 individuals from 4 unrelated families reported; ID/seizures/ataxia are a consistent features.
Sources: Expert list
Created: 25 Jan 2020, 8:56 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

Created: 25 Jan 2020, 8:56 a.m.

Panel version: Imported from Ataxia_Paediatric panel version 0.41

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 23
OMIM
605764
Clinvar variants
Variants in TDP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tdp2 has been classified as Green List (High Evidence).

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TDP2 was added gene: TDP2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TDP2 were set to 31410782; 30109272; 24658003 Phenotypes for gene: TDP2 were set to Spinocerebellar ataxia, autosomal recessive 23