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  3. TDP1
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Hereditary neuropathy

Gene: TDP1

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

7 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.
Created: 29 Apr 2019, 12:53 p.m.

Panel version: 1.63

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

Bristol - no pathogenic or likely pathogenic variants out of approx.1900 patients tested. Not clearly associated with hereditary neuropathy. PMID: 12244316 - only report. Single family to date for the association with spinocerebellar ataxia
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary Neuropathies

Publications

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

Created: 29 Apr 2019, 12:30 p.m.

Panel version: 1.58

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Richard Scott (Genomics England Curator)

Comment on list classification: Single family reported to date
Created: 8 Jul 2016, 4:23 a.m.
Created: 8 Jul 2016, 4:23 a.m.

Panel version: 0.223

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Seems to only have a single family to date for the association with spinocerebellar ataxia.
Created: 4 May 2016, 9:27 a.m.
Created: 4 May 2016, 9:27 a.m.

Panel version: 0.45

Alexander Rossor (UCL Institute of Neurology)

Spino cerebellar ataxia, single family
Created: 9 Dec 2015, 8:49 a.m.
Created: 9 Dec 2015, 8:49 a.m.

Panel version: 0

Mary Reilly (Institute of Neurology)

Spino cerebellar ataxia
Created: 8 Dec 2015, 3:05 p.m.
Created: 8 Dec 2015, 3:05 p.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
  • Emory Genetics Laboratory
  • UKGTN
  • Expert list
Phenotypes
  • Hereditary Neuropathies
OMIM
607198
Clinvar variants
Variants in TDP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: TDP1 was changed from to BIALLELIC, autosomal or pseudoautosomal

29 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Hereditary Neuropathies for gene: TDP1 Publications for gene TDP1 were changed from to 12244316

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TDP1.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to TDP1.

8 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

4 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TDP1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TDP1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TDP1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory