Hereditary ataxia - adult onsetGene: TDP1
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.
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
Autosomal recessive spinocerebellar ataxia with axonal neuropathy, 607250
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Autosomal recessive spinocerebellar ataxia with axonal neuropathy, 607250 for gene: TDP1
Source NHS GMS was added to TDP1.
Source Wessex and West Midlands GLH was added to TDP1.
Louise Daugherty: Comment on phenotypes: Implica
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