Genes in panel

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 6 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.

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

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Richard Scott (Genomics England Curator)

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

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.

Alexander Rossor (UCL Institute of Neurology)

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

Mary Reilly (Institute of Neurology)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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