Childhood onset dystonia, chorea or related movement disorder
STR: FXN_GAA
The rating of this STR has been updated to green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 6:18 p.m. | Last Modified: 30 Jan 2023, 6:18 p.m.
Panel Version: 2.9
The FXN expansion has a well recognized association with Friedreich ataxia OMIM:229300
Comment from Zornitza Stark for FXN:
Primarily an ataxia, and also commonly caused by a GAA trinucleotide repeat expansion in intron 1 of the FXN gene.Created: 13 May 2021, 11:50 a.m. | Last Modified: 13 May 2021, 2:35 p.m.
Panel Version: 1.105
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 13 May 2021, 11:22 a.m. | Last Modified: 13 May 2021, 11:22 a.m.
Panel Version: 1.105
Publications
Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert listCreated: 21 Dec 2018, 4:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Friedreich ataxia 229300
Tag Q2_21_rating was removed from STR: FXN_GAA.
Str: fxn_gaa has been classified as Green List (High Evidence).
Source NHS GMS was added to STR: FXN_GAA.
Publications for STR: FXN_GAA were set to
Tag Q2_21_rating tag was added to STR: FXN_GAA.
Str: fxn_gaa has been classified as Amber List (Moderate Evidence).
STR: FXN_GAA was added STR: FXN_GAA was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list,Expert Review Green STR tags were added to STR: FXN_GAA. Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: FXN_GAA were set to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340