Hereditary neuropathy NOT PMP22 copy numberGene: FXN
Comment on mode of inheritance: Updated MOI to 'Biallelic' as monoallelic variants have not been associated with disease. Patients either harbour a homozygous expansion or are compound heterozygous for an expansion and a point mutation.
Created: 11 Nov 2021, 2:55 p.m. | Last Modified: 11 Nov 2021, 2:55 p.m.
Panel Version: 1.65
Unable to find any evidence of clear neuropathy association - Friedreich ataxia
Created: 29 Apr 2019, 12:30 p.m.
Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - ataxia with neuropathy / Rate as Green if STR Green Should be on ataxia panels
Created: 6 Dec 2019, 8:12 p.m. | Last Modified: 6 Dec 2019, 8:12 p.m.
Panel Version: 0.57
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 8:11 p.m. | Last Modified: 6 Dec 2019, 8:11 p.m.
Panel Version: 0.57
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.
Phenotypes for gene: FXN were changed from Hereditary Neuropathies; Friedreich ataxia, 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
Mode of inheritance for gene: FXN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Phenotypes for gene: FXN were changed from Hereditary Neuropathies to Hereditary Neuropathies; Friedreich ataxia, 229300
Mode of inheritance for gene: FXN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: fxn has been classified as Amber List (Moderate Evidence).
gene: FXN was added gene: FXN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,Expert Review Red,South West GLH Mode of inheritance for gene: FXN was set to Phenotypes for gene: FXN were set to Hereditary Neuropathies