Hereditary neuropathyGene: FXN
Unable to find any evidence of clear neuropathy association - Friedreich ataxia
Created: 29 Apr 2019, 12:30 p.m.
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.
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.
STR + sequence mutations
Created: 29 Apr 2019, 9:20 a.m.
Comment on list classification: Neuropathy in the context of ataxia; caution in reporting in absence of ataxia
Created: 8 Jul 2016, 4:30 a.m.
Causes a neuropathy with ataxia
Created: 9 May 2019, 12:18 p.m.
Ataxia and neuropathy, should be included especially if including other SCA expansions
Created: 9 Dec 2015, 8:49 a.m.
Ataxia and neuropathy, not true CMT
Created: 8 Dec 2015, 3:05 p.m.
Added phenotypes Hereditary Neuropathies for gene: FXN
Source South West GLH was added to FXN.
Source NHS GMS was added to FXN.
Source London North GLH was added to FXN.
This gene has been classified as Red List (Low Evidence).
FXN was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory