FXN

PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300
R-numbers: R57
Signed-off version 1.137
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 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Friedreichataxia, 229300, Friedreich ataxia, 229300, Friedreich ataxia with retained reflexes,229300
R-numbers: R60
Signed-off version 1.27
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 2.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Friedreich ataxia, 229300
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Friedreich ataxia, 229300, Friedreich ataxia with retained reflexes, 229300, Hereditary ataxia, Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))