DDG2P
Gene: TDP2

TDP2 (tyrosyl-DNA phosphodiesterase 2)
EnsemblGeneIds (GRCh38): ENSG00000111802
EnsemblGeneIds (GRCh37): ENSG00000111802
OMIM: 605764, Gene2Phenotype
TDP2 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease TDP2-related spinocerebellar ataxia with seizures and developmental delay is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;decreased gene product level (PMID: 32651480;31410782;34606976;30109272;24658003).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.

Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
TDP2-related spinocerebellar ataxia with seizures and developmental delay

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

TDP2-related spinocerebellar ataxia with seizures and developmental delay

OMIM

605764

Clinvar variants

Variants in TDP2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TDP2 was added gene: TDP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TDP2 were set to 34606976; 31410782; 32651480; 30109272; 24658003 Phenotypes for gene: TDP2 were set to TDP2-related spinocerebellar ataxia with seizures and developmental delay

DDG2P Gene: TDP2