Hereditary neuropathy NOT PMP22 copy numberGene: 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 ataxia
Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Single family reported to date
Created: 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 family
Created: 9 Dec 2015, 8:49 a.m.
Spino cerebellar ataxia
Created: 8 Dec 2015, 3:05 p.m.
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