Hereditary spastic paraplegia - childhood onsetGene: FXN
New Green gene added and agreed from the GMS Neurology Specialist Test Group Webex on 17th May 2019. Single nucleotide variants can cause the disease (often compound het STR + SNV)
Sources: Expert Review
Created: 22 May 2019, 10:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Friedreich ataxia, 229300
Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340
Gene: fxn has been classified as Green List (High Evidence).
gene: FXN was added gene: FXN was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXN were set to 8596916; 9150176; 9737785; 21830088 Phenotypes for gene: FXN were set to Friedreich ataxia, 229300 Review for gene: FXN was set to GREEN