Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

Gene: FXN

Green List (high evidence)

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

7 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 9 variants identified in unrelated cases.
FXN is rated Red on the mitochondrial panels 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 different to other mitochondrial conditions.
Created: 1 Aug 2019, 1:06 p.m. | Last Modified: 1 Aug 2019, 1:06 p.m.
Panel Version: 1.72

Anna de Burca (Genomics England Curator)

Green List (high evidence)

Although this encodes a mitochondrial protein, this mainly results in ataxia
Created: 19 Jun 2019, 12:26 p.m.

Phenotypes
Friedreich ataxia, 229300

Carl Fratter (Oxford University Hospitals NHS Trust)

Red List (low evidence)

Red - Friedreich ataxia - not considered a primary mitochondrial disorder
Created: 11 Jun 2019, 3:59 p.m.

Phenotypes
Friedreich ataxia, 229300

Ivone Leong (Genomics England Curator)

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.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Asked second reviewer - should remain red for now.
Created: 7 Mar 2016, 5:56 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

1 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to FXN. Source London North GLH was added to FXN.

21 Jan 2019, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300Friedreich ataxia with retained reflexes, 229300; Hereditary ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) to Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300; Hereditary ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Friedreich ataxia, 229300Friedreich ataxia with retained reflexes, 229300 for gene: FXN

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: FXN was added gene: FXN was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXN were set to 27604308 Phenotypes for gene: FXN were set to Hereditary ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))