Hereditary neuropathy or pain disorder
STR: FXN_GAAGRCh37 Position: 71652203-71652220
GRCh38 Position: 69037287-69037304
Repeated Sequence: GAA
Normal Number of Repeats: < 44
Pathogenic Number of Repeats: = or > 66
FXN (frataxin)
EnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 0 panels
1 review
Sarah Leigh (Genomics England Curator)
The rating of this STR has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval (added as per previous conversations with James Polke).Created: 25 Feb 2025, 10:24 a.m. | Last Modified: 25 Feb 2025, 10:24 a.m.
Panel Version: 6.149
This STR has been added to Hereditary neuropathy or pain disorder panel, on the recommendation of James Polke (Rare & Inherited Disease Genomic Laboratory, NHS North Thames GLH). Biallelic (including compound heterozygous) FXN variants, both single nucleotide and repeat expansions, have been associated with Friedreich ataxia, OMIM:229300.
The STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Sources: NHS GMSCreated: 6 Jan 2025, 4:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Friedreich ataxia, OMIM:229300; Friedreich ataxia 1, MONDO:0100340
Details
- Name
- FXN_GAA
- Chromosome
- 9
- GRCh37 Coordinates
- 71652203-71652220
- GRCh38 Coordinates
- 69037287-69037304
- Repeated Sequence
- GAA
- Normal Number of Repeats: <
- 44
- Pathogenic Number of Repeats: = or >
- 66
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Friedreich ataxia, OMIM:229300
- Friedreich ataxia 1, MONDO:0100340
- Tags
- OMIM
- 606829
- Clinvar variants
- Variants in FXN
- Penetrance
- None
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from STR: FXN_GAA. Tag Q3_24_NHS_review was removed from STR: FXN_GAA.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Str: fxn_gaa has been classified as Green List (High Evidence).
Added Tag
Sarah Leigh (Genomics England Curator)Tag STR tag was added to STR: FXN_GAA.
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to STR: FXN_GAA. Tag Q3_24_NHS_review tag was added to STR: FXN_GAA.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Str: fxn_gaa has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)STR: FXN_GAA was added STR: FXN_GAA was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: FXN_GAA were set to Friedreich ataxia, OMIM:229300; Friedreich ataxia 1, MONDO:0100340 Review for STR: FXN_GAA was set to GREEN