Mitochondrial disorders
Gene: FXNEnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 18 panels
7 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: FXN is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Friedreich’s ataxia, which is technically a mitochondrial disorder, but the phenotype is quite different to other mitochondrial conditions.Created: 1 Aug 2019, 12:59 p.m. | Last Modified: 1 Aug 2019, 12:59 p.m.
Panel Version: 1.413
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Although this encodes a mitochondrial protein, this mainly results in ataxiaCreated: 19 Jun 2019, 12:26 p.m.
Phenotypes
Friedreich ataxia, 229300
Carl Fratter (Oxford University Hospitals NHS Trust)
Red - Friedreich ataxia - not considered a primary mitochondrial disorderCreated: 11 Jun 2019, 3:59 p.m.
Phenotypes
Friedreich ataxia, 229300
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from red to green based on the provided expert reviews. FXN is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases of patients with variants in this gene; therefore, there is sufficient evidence to support the promotion of this gene to green status.Created: 2 May 2019, 9:50 a.m.
Zornitza Stark (Australian Genomics)
The literature which considers FA to be a mitochondrial disorder is extensive. Note trinucleotide expansion accounts for majority of mutations.Created: 29 Aug 2018, 7:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Freidrich's ataxia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Asked second reviewer - should remain red for now.Created: 7 Mar 2016, 5:56 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Expert
- Phenotypes
-
- Friedreich ataxia, OMIM:229300
- Friedreich ataxia with retained reflexes, OMIM:229300
- Tags
- OMIM
- 606829
- Clinvar variants
- Variants in FXN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial disorders
- DDG2P
- Optic neuropathy
- Intellectual disability
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Possible mitochondrial disorder - nuclear genes
- Hypertrophic cardiomyopathy
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
Added Tag
Arina Puzriakova (Genomics England Curator)Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: fxn has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: fxn has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: FXN were set to
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: FXN was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300Friedreich ataxia with retained reflexes, 229300 to Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to FXN. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (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 All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)FXN was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen