Hereditary neuropathy
Gene: FXNEnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 18 panels
8 reviews
Arina Puzriakova (Genomics England Curator)
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, 2:54 p.m. | Last Modified: 11 Nov 2021, 2:54 p.m.
Panel Version: 1.428
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy association - Friedreich ataxiaCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Hereditary Neuropathies
Louise Daugherty (Genomics England Curator)
The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
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)
STR + sequence mutationsCreated: 29 Apr 2019, 9:20 a.m.
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Richard Scott (Genomics England Curator)
Comment on list classification: Neuropathy in the context of ataxia; caution in reporting in absence of ataxiaCreated: 8 Jul 2016, 4:30 a.m.
Alexander Rossor (UCL Institute of Neurology)
Causes a neuropathy with ataxiaCreated: 9 May 2019, 12:18 p.m.
Ataxia and neuropathy, should be included especially if including other SCA expansionsCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
Ataxia and neuropathy, not true CMTCreated: 8 Dec 2015, 3:05 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- South West GLH
- NHS GMS
- London North GLH
- Emory Genetics Laboratory
- Phenotypes
-
- Friedreich ataxia OMIM:229300
- Friedreich ataxia with retained reflexes OMIM:229300
- Friedreich ataxia 1 MONDO:0100340
- Tags
- OMIM
- 606829
- Clinvar variants
- Variants in FXN
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial disorders
- DDG2P
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Possible mitochondrial disorder - nuclear genes
- Hypertrophic cardiomyopathy
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: FXN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Added Tag
Arina Puzriakova (Genomics England Curator)Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: FXN were changed from Hereditary Neuropathies; Friedreich ataxia, 229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: FXN were changed from Hereditary Neuropathies to Hereditary Neuropathies; Friedreich ataxia, 229300
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
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to FXN. Rating Changed from Red List (low evidence) to Green List (high evidence)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Hereditary Neuropathies for gene: FXN
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to FXN.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FXN.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to FXN.
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)FXN was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory