FXN

PanelMode of inheritanceDetails
6 panels
R-numbers: R60
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
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Friedreich ataxia OMIM:229300, Friedreich ataxia with retained reflexes OMIM:229300, Friedreich ataxia 1 MONDO:0100340
R-numbers: R57
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
R-numbers: R61
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Friedreich ataxia OMIM:229300, Friedreich ataxia with retained reflexes OMIM:229300, Friedreich ataxia 1 MONDO:0100340
R-numbers: R54
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Friedreich ataxia OMIM:229300, Friedreich ataxia with retained reflexes OMIM:229300, Friedreich ataxia 1 MONDO:0100340
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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Friedreich ataxia OMIM:229300, Friedreich ataxia with retained reflexes OMIM:229300, Friedreich ataxia 1 MONDO:0100340