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  3. FXN
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Ataxia - paediatric

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)

Green List (high evidence)

Onset usually before adolescence. Most common genetic abnormality is the trinucleotide repeat expansion, but also SNVs and indels reported.
Sources: Expert list
Created: 16 Apr 2020, 11:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Friedreich ataxia MIM#229300

Created: 16 Apr 2020, 11:34 p.m.

Panel version: 0.117

History Filter Activity

16 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).

16 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).

16 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FXN was added gene: FXN was added to Ataxia - paediatric. Sources: Expert list STR tags were added to gene: FXN. Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FXN were set to Friedreich ataxia MIM#229300 Review for gene: FXN was set to GREEN