Hereditary ataxia

Gene: FXN

Green List (high evidence)

FXN (frataxin)
EnsemblGeneIds (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 included
Created: 3 Jun 2016, noon
Comment when marking as ready: Mostly repeat expansion, but sometimes point mutations so included
Created: 3 Jun 2016, 11:59 a.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

I don't know

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

History Filter Activity

11 Jul 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

Mode of inheritance for FXN was changed to BIALLELIC, autosomal or pseudoautosomal

3 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FXN was added to Hereditary ataxiapanel. Sources: Eligibility statement prior genetic testing

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FXN was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FXN was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen