Genomics England

FXN_GAA

frataxin

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 5.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Friedreich ataxia, OMIM:229300, Friedreich ataxia with retained reflexes, OMIM:229300
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.19	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 6.5	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 7.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Friedreich ataxia, OMIM:229300, Friedreich ataxia with retained reflexes, OMIM:229300
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 7.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Friedreich ataxia, OMIM:229300, Friedreich ataxia with retained reflexes, OMIM:229300
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.163	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Friedreich ataxia, OMIM:229300, Friedreich ataxia 1, MONDO:0100340
Green in Likely inborn error of metabolism 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 7.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Friedreich ataxia OMIM:229300, Friedreich ataxia with retained reflexes OMIM:229300, Friedreich ataxia 1 MONDO:0100340