Hereditary Spastic Paraplegia - adult onset
Gene: FXNEnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: A trinucleotide repeat and SNV/indels are both causes of disease in this gene.Created: 19 Apr 2020, 10:15 a.m. | Last Modified: 19 Apr 2020, 10:15 a.m.
Panel Version: 0.10
Lower limb spasticity can be a feature of the condition. >3 cases reported.Created: 19 Apr 2020, 10:14 a.m. | Last Modified: 19 Apr 2020, 10:14 a.m.
Panel Version: 0.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Friedreich ataxia MIM#229300
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Friedreich ataxia, 229300
- Tags
- OMIM
- 606829
- Clinvar variants
- Variants in FXN
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to gene: FXN.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fxn has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fxn has been classified as Green List (High Evidence).
Added Tag
Bryony Thompson (Royal Melbourne Hospital)Tag STR tag was added to gene: FXN.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FXN was added gene: FXN was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FXN were set to Friedreich ataxia, 229300