Ataxia and cerebellar anomalies - narrow panelGene: FXN
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
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: FXN was added gene: FXN was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FXN were set to Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300