Hereditary ataxia
Gene: TDP1

TDP1 (tyrosyl-DNA phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000042088
EnsemblGeneIds (GRCh37): ENSG00000042088
OMIM: 607198, Gene2Phenotype
TDP1 is in 7 panels

2 reviews

emma baple (Genomics England Curator)

Comment when marking as ready: Limited evidence currently only a single family
Created: 11 Jul 2016, 4:03 a.m.

Created: 11 Jul 2016, 4:03 a.m.

Panel version: 0.73

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Only a single family to date
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive with axonal neuropathy

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

Created: 24 Nov 2015, 4:57 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
UKGTN
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Spinocerebellar ataxia, autosomal recessive with axonal neuropathy

OMIM

607198

Clinvar variants

Variants in TDP1

Penetrance

Complete

Panels with this gene

History Filter Activity

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2015, Gel status: 3