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Hereditary neuropathy NOT PMP22 copy number

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
  • South West GLH
  • Expert Review Red
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
  • NHS GMS
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Neuropathies
OMIM
607198
Clinvar variants
Variants in TDP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TDP1 was added gene: TDP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TDP1 were set to 12244316 Phenotypes for gene: TDP1 were set to Hereditary Neuropathies