Hereditary spastic paraplegia - childhood onset

Gene: FXN

Green List (high evidence)

FXN (frataxin)
EnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 18 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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


History Filter Activity

11 Nov 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: FXN.

11 May 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

22 May 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: fxn has been classified as Green List (High Evidence).

22 May 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

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