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DDG2P

Gene: FXN

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for FXN-related Friedreich ataxia are definitive, biallelic_autosomal and loss of function (PMIDs: 10633128, 22409940, 22691228, 24705334, 25566998, 26704351, 28405347, 30681346). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03444.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease FXN-related Friedreich ataxia is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure;decreased gene product level. This gene is typified by age related penetrance (PMID: 28405347;25566998;30681346;24705334;10633128;22409940;26704351;22691228).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 9:55 p.m.
Panel Version: 5.44

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FXN-related Friedreich ataxia; MONDO:0100340; OMIM:229300.0

Publications

Mode of pathogenicity
Other

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 9:55 p.m.
Panel version: 6.17

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: FXN was changed from Other to None

21 Feb 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FXN was added gene: FXN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXN were set to 22691228; 24705334; 26704351; 22409940; 28405347; 25566998; 10633128; 30681346 Phenotypes for gene: FXN were set to FXN-related Friedreich ataxia Mode of pathogenicity for gene: FXN was set to Other