Hereditary ataxia with onset in adulthood
Gene: TTPA
On Sheffield panel. 26 DM in HGMD.Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
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.
Multiple cases and variants reported in literatureCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ataxia with isolated vitamin E deficiency, 277460
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to TTPA.
Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 for gene: TTPA
Source NHS GMS was added to TTPA.
Source Wessex and West Midlands GLH was added to TTPA.
Checked panel against panel constituents. Ready to promote to version 1.
gene: TTPA was added gene: TTPA was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTPA were set to Ataxia with Vitamin E Deficiency; Ataxia with isolated vitamin E deficiency