Hereditary ataxia
Gene: FXNComment when marking as ready: mostly repeat expansion, but sometimes point mutations therefore includedCreated: 3 Jun 2016, noon
Comment when marking as ready: Mostly repeat expansion, but sometimes point mutations so includedCreated: 3 Jun 2016, 11:59 a.m.
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
Phenotypes for gene: FXN were changed from Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340
Mode of inheritance for FXN was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
FXN was added to Hereditary ataxiapanel. Sources: Eligibility statement prior genetic testing
FXN was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
FXN was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen