Hereditary neuropathy
Gene: TDP1
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.
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 ataxiaCreated: 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
Comment on list classification: Single family reported to dateCreated: 8 Jul 2016, 4:23 a.m.
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.
Spino cerebellar ataxia, single familyCreated: 9 Dec 2015, 8:49 a.m.
Spino cerebellar ataxiaCreated: 8 Dec 2015, 3:05 p.m.
Mode of inheritance for gene: TDP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hereditary Neuropathies for gene: TDP1 Publications for gene TDP1 were changed from to 12244316
Source NHS GMS was added to TDP1.
Source South West GLH was added to TDP1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
TDP1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory
TDP1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory
TDP1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory