Hereditary ataxia with onset in adulthood
STR: FXN_GAA

Chromosome: 9
GRCh37 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

2 reviews

Sarah Leigh (Genomics England Curator)

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 1:05 p.m. | Last Modified: 15 Mar 2022, 1:05 p.m.

Panel Version: 2.147

Created: 15 Mar 2022, 1:05 p.m.
Last Modified: 15 Mar 2022, 1:05 p.m.
Panel version: 2.147

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Created: 5 Aug 2019, 3:12 p.m. | Last Modified: 5 Aug 2019, 3:12 p.m.

Panel Version: 1.194

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Needs care with filtering here - SNVs in compound het with expansion can be pathogenic. Needs availability of a mixed STR/SNV model for inheritance OR no filtering of single LoF variants. Do you report variants in this gene as part of your current diagnostic practice? No
Created: 14 Apr 2019, 4:10 p.m.

Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert list
Created: 21 Dec 2018, 1:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Friedreich ataxia 229300

Created: 21 Dec 2018, 1:08 p.m.

Panel version: 1.194

Details

Name

FXN_GAA

Chromosome

GRCh37 Coordinates

71652203-71652220

GRCh38 Coordinates

69037287-69037304

Repeated Sequence

GAA

Normal Number of Repeats: <

Pathogenic Number of Repeats: = or >

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

London North GLH
Wessex and West Midlands GLH
NHS GMS
Expert Review Green
Expert list

Phenotypes

Friedreich ataxia, OMIM:229300
Friedreich ataxia with retained reflexes, OMIM:229300

Tags

STR

OMIM

606829

Clinvar variants

Variants in FXN

Penetrance

None

History Filter Activity

11 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300

7 Jul 2019, Gel status: 3