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  2. Childhood onset hereditary spastic paraplegia
  3. FXN_GAA

Childhood onset 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

3 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: 2.130
Created: 15 Mar 2022, 1:05 p.m.
Last Modified: 15 Mar 2022, 1:05 p.m.
Panel version: 2.130

Arianna Tucci (Genomics England Curator)

onset in childhood
Created: 26 Feb 2019, 11:20 a.m.
Created: 26 Feb 2019, 11:20 a.m.

Panel version: 1.0

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May. Agreed to leave rating as Green.
Created: 22 May 2019, 11:10 a.m.
Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 28 Apr 2019, 4:21 p.m.
Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Created: 21 Dec 2018, 2:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Friedreich ataxia 229300

Created: 21 Dec 2018, 2:08 p.m.

Panel version: 1.169

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
  • 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

10 Mar 2022, Gel status: 3

Added New Source

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to STR: FXN_GAA.

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

28 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Source PanelApp panels : Hered

21 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

21 Dec 2018, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

STR: FXN_GAA was added STR: FXN_GAA was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: FXN_GAA. Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: FXN_GAA were set to Friedreich ataxia 229300 Review for STR: FXN_GAA was set to GREEN