Childhood onset hereditary spastic paraplegia
Gene: FXNEnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 18 panels
1 review
Louise Daugherty (Genomics England Curator)
New Green gene added and agreed from the GMS Neurology Specialist Test Group Webex on 17th May 2019. Single nucleotide variants can cause the disease (often compound het STR + SNV)
Sources: Expert ReviewCreated: 22 May 2019, 10:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Friedreich ataxia, 229300
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- 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 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: fxn has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)gene: FXN was added gene: FXN was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXN were set to 8596916; 9150176; 9737785; 21830088 Phenotypes for gene: FXN were set to Friedreich ataxia, 229300 Review for gene: FXN was set to GREEN