Genomics England

FXN

frataxin

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 3.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Friedreich ataxia OMIM:229300, Friedreich ataxia with retained reflexes OMIM:229300, Friedreich ataxia 1 MONDO:0100340
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Friedreich ataxia OMIM:229300, Friedreich ataxia with retained reflexes OMIM:229300, Friedreich ataxia 1 MONDO:0100340
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Friedreich ataxia OMIM:229300, Friedreich ataxia with retained reflexes OMIM:229300, Friedreich ataxia 1 MONDO:0100340
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Friedreich ataxia OMIM:229300, Friedreich ataxia with retained reflexes OMIM:229300, Friedreich ataxia 1 MONDO:0100340
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Friedreich ataxia OMIM:229300, Friedreich ataxia with retained reflexes OMIM:229300, Friedreich ataxia 1 MONDO:0100340
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Friedreich ataxia OMIM:229300, Friedreich ataxia with retained reflexes OMIM:229300, Friedreich ataxia 1 MONDO:0100340