Hereditary ataxia
Gene: FXNEnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 18 panels
2 reviews
emma baple (Genomics England Curator)
Comment when marking as ready: mostly repeat expansion, but sometimes point mutations therefore includedCreated: 3 Jun 2016, noon
Comment when marking as ready: Mostly repeat expansion, but sometimes point mutations so includedCreated: 3 Jun 2016, 11:59 a.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Mostly repeat expansion. ?NOT APPROPRIATE, bar very rare possibility of compound het point mutations?Created: 24 Nov 2015, 4:57 p.m.
Phenotypes
Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300
Mode of pathogenicity
Other - please provide details in the comments
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- UKGTN
- 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 or pain disorder
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Hereditary spastic paraplegia
- DDG2P
- Hypertrophic cardiomyopathy
- Adult onset hereditary spastic paraplegia
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: FXN were changed from Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for FXN was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)FXN was added to Hereditary ataxiapanel. Sources: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)FXN was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)FXN was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen