Childhood onset dystonia, chorea or related movement disorder
Gene: FXN
Based on the view of Helen Brittain (Genomic England Clinical Fellow); it is OK for this gene to be green on this panel as dysarthria / limb ataxia may overlap clinically with this group of disorders. Prior green GMS rating.Created: 20 Jul 2021, 3:56 p.m. | Last Modified: 20 Jul 2021, 3:56 p.m.
Panel Version: 1.136
Primarily an ataxia, and also commonly caused by a GAA trinucleotide repeat expansion in intron 1 of the FXN gene.Created: 5 Sep 2020, 8:09 a.m. | Last Modified: 5 Sep 2020, 8:09 a.m.
Panel Version: 1.49
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Friedreich ataxia, MIM# 229300
Suggested by Huw and RaquelCreated: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.
Panel Version: 0.9
Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Phenotypes for gene: FXN were changed from Friedreich ataxia; Friedreich ataxia with retained reflexes, 229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340
Phenotypes for gene: FXN were changed from Friedreich ataxia; Friedreich ataxia with retained reflexes to Friedreich ataxia; Friedreich ataxia with retained reflexes, 229300
Phenotypes for gene: FXN were changed from to Friedreich ataxia; Friedreich ataxia with retained reflexes
Mode of inheritance for gene: FXN was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: FXN was added gene: FXN was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: FXN was set to