1. Panels
  2. Ataxia - adult onset
  3. FXN
Regions in panel
Prev Next

Ataxia - adult onset

Gene: FXN

Green List (high evidence)
FXN (frataxin)
EnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 12 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Both repeat and SNV can cause disease
Created: 18 Apr 2020, 3:12 a.m. | Last Modified: 18 Apr 2020, 3:12 a.m.
Panel Version: 0.31
Created: 18 Apr 2020, 3:12 a.m.
Last Modified: 18 Apr 2020, 3:12 a.m.
Panel version: 0.31

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Friedreich ataxia with retained reflexes,229300
  • Friedreich ataxia, 229300
  • Friedreichataxia, 229300
Tags
STR
OMIM
606829
Clinvar variants
Variants in FXN
Penetrance
None
Panels with this gene

History Filter Activity

18 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fxn has been classified as Green List (High Evidence).

18 Apr 2020, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag STR tag was added to gene: FXN.

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: FXN was added gene: FXN was added to Ataxia - 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 with retained reflexes,229300; Friedreich ataxia, 229300; Friedreichataxia, 229300