Genes in panel

Hereditary ataxia - adult onset

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Single homozygous missense variant reported in one family. Insufficient evidence
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal recessive spinocerebellar ataxia with axonal neuropathy, 607250

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Red
  • Hereditary ataxia v1.148
Phenotypes
  • Autosomal recessive spinocerebellar ataxia with axonal neuropathy, 607250
  • Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
OMIM
607198
Clinvar variants
Variants in TDP1
Penetrance
None
Panels with this gene

History Filter Activity

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Autosomal recessive spinocerebellar ataxia with axonal neuropathy, 607250 for gene: TDP1

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TDP1.

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to TDP1.

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Implica

15 Dec 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: TDP1 was added gene: TDP1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TDP1 were set to Spinocerebellar ataxia, autosomal recessive with axonal neuropathy