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Hereditary neuropathy NOT PMP22 copy number

Gene: FXN

Amber List (moderate evidence)

FXN (frataxin)
EnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 18 panels

7 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

Unable to find any evidence of clear neuropathy association - Friedreich ataxia
Created: 29 Apr 2019, 12:30 p.m.

Hereditary Neuropathies

Louise Daugherty (Genomics England Curator)

I don't know

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
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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

STR + sequence mutations
Created: 29 Apr 2019, 9:20 a.m.

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Richard Scott (Genomics England Curator)

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.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

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.

Mary Reilly (Institute of Neurology)

Ataxia and neuropathy, not true CMT
Created: 8 Dec 2015, 3:05 p.m.

History Filter Activity

7 Dec 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FXN were changed from Hereditary Neuropathies to Hereditary Neuropathies; Friedreich ataxia, 229300

7 Dec 2019, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: FXN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: fxn has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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