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Hereditary spastic paraplegia

STR: FXN_GAA

Green List (high evidence)
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, 1:04 p.m. | Last Modified: 15 Mar 2022, 1:04 p.m.
Panel Version: 1.289
Created: 15 Mar 2022, 1:04 p.m.
Last Modified: 15 Mar 2022, 1:04 p.m.
Panel version: 1.289

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Created: 4 Dec 2018, 1:18 p.m.
Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review
Created: 4 Dec 2018, 1:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 4 Dec 2018, 1:18 p.m.

Panel version: 1.73

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 with retained reflexes, OMIM:229300
Tags
STR
OMIM
606829
Clinvar variants
Variants in FXN
Penetrance
None

History Filter Activity

10 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Str: fxn_gaa has been classified as Green List (High Evidence).

10 Mar 2022, Gel status: 1

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to STR: FXN_GAA. Rating Changed from Green List (high evidence) to Red List (low evidence)

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

21 Dec 2018, Gel status: 4

Changed Pathogenic Number of Repeats

Louise Daugherty (Genomics England Curator)

Pathogenic Number of Repeats for FXN_GAA was changed from 63 to 66.

20 Dec 2018, Gel status: 3

Changed GRCh38, Status Update

Louise Daugherty (Genomics England Curator)

GRCh38 position for FXN_GAA was changed from 69037287-69037303 to 69037287-69037304. Rating Changed from Green List (high evidence) to Green List (high evidence)

7 Dec 2018, Gel status: 3

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for STR: FXN_GAA were changed from to Friedreich ataxia 229300

5 Dec 2018, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag STR tag was added to STR: FXN_GAA.

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

Str: fxn_gaa has been classified as Green List (High Evidence).

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

Str: fxn_gaa has been classified as Green List (High Evidence).

4 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arianna Tucci (Genomics England Curator)

STR: FXN_GAA was added STR: FXN_GAA was added to Hereditary spastic paraplegia. Sources: Expert Review Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal STR: FXN_GAA was marked as current diagnostic