Likely inborn error of metabolism
Gene: FXNEnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 18 panels
7 reviews
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Friedreich ataxia, 229300;Friedreich ataxia with retained reflexes, 229300;Hereditary ataxia;Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))Created: 11 May 2021, 2:42 p.m. | Last Modified: 11 May 2021, 2:42 p.m.
Panel Version: 2.132
Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 9 variants identified in unrelated cases.
FXN is rated Red on the mitochondrial panels 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 different to other mitochondrial conditions.Created: 1 Aug 2019, 1:06 p.m. | Last Modified: 1 Aug 2019, 1:06 p.m.
Panel Version: 1.72
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 Green
- London North GLH
- NHS GMS
- 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
- None
- Publications
- 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
- 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
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
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 Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300; Hereditary ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: fxn has been classified as Green List (High Evidence).
Added New Source, Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to FXN. Source London North GLH was added to FXN.
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300Friedreich ataxia with retained reflexes, 229300; Hereditary ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) to Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300; Hereditary ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Sarah Leigh: Associated with relevant pheno
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Friedreich ataxia, 229300Friedreich ataxia with retained reflexes, 229300 for gene: FXN
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: FXN was added gene: FXN was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXN were set to 27604308 Phenotypes for gene: FXN were set to Hereditary ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))