Mitochondrial disorders
Gene: FXNComment on list classification: FXN is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Friedreich’s ataxia, which is technically a mitochondrial disorder, but the phenotype is quite different to other mitochondrial conditions.Created: 1 Aug 2019, 12:59 p.m. | Last Modified: 1 Aug 2019, 12:59 p.m.
Panel Version: 1.413
Although this encodes a mitochondrial protein, this mainly results in ataxiaCreated: 19 Jun 2019, 12:26 p.m.
Phenotypes
Friedreich ataxia, 229300
Red - Friedreich ataxia - not considered a primary mitochondrial disorderCreated: 11 Jun 2019, 3:59 p.m.
Phenotypes
Friedreich ataxia, 229300
Comment on list classification: Promoted from red to green based on the provided expert reviews. FXN is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases of patients with variants in this gene; therefore, there is sufficient evidence to support the promotion of this gene to green status.Created: 2 May 2019, 9:50 a.m.
The literature which considers FA to be a mitochondrial disorder is extensive. Note trinucleotide expansion accounts for majority of mutations.Created: 29 Aug 2018, 7:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Freidrich's ataxia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Asked second reviewer - should remain red for now.Created: 7 Mar 2016, 5:56 p.m.
Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Gene: fxn has been classified as Red List (Low Evidence).
Gene: fxn has been classified as Green List (High Evidence).
Publications for gene: FXN were set to
Mode of inheritance for gene: FXN was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300Friedreich ataxia with retained reflexes, 229300 to Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300
Victorian Clinical Genetics Services was added to FXN. Panel: Mitochondrial disorders
This gene has been classified as Red List (Low Evidence).
FXN was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen
FXN was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen