Mitochondrial disease

Gene: FXN

Green List (high evidence)

Well-established gene-disease association. 96% of cases are caused by biallelic intronic GAA triplet repeat expansion and 4% are attributable to biallelic single nucleotide variants and small indels. Loss of function is the mechanism of disease.

Created: 13 May 2022, 4:05 a.m. | Last Modified: 13 May 2022, 4:05 a.m.

Panel Version: 0.14223

Comment on list classification: Both repeat and SNV can cause disease

Created: 18 Apr 2020, 3:12 a.m. | Last Modified: 18 Apr 2020, 3:12 a.m.

Panel Version: 0.31

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Friedreich ataxia MONDO:0100339

Publications

• 20301458
• 26704351

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Some debate about whether this is considered a mitochondrial disorder. The FRDA gene product, frataxin, is a widely expressed mitochondrial protein which is severely reduced in FRDA patients. Loss of the homologue of frataxin in yeast is associated with mitochondrial iron overload, increased sensitivity to oxidative stress and profound deficit of oxidative phosphorylation. Note only ~2% of variants are SNVs, the rest STR.

Created: 11 Mar 2020, 7:52 a.m. | Last Modified: 11 Mar 2020, 7:52 a.m.

Panel Version: 0.121

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Friedreich ataxia, MIM# 229300

Publications

• 10500103
• 11351132