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Adult 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

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: 1.95
Created: 15 Mar 2022, 1:05 p.m.
Last Modified: 15 Mar 2022, 1:05 p.m.
Panel version: 1.95

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.
Created: 22 May 2019, 12:15 p.m.
Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment str (Variants in this STR are reported as part of current diagnostic practice)
Created: 26 Apr 2019, 1:10 p.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
Sources: Expert list
Created: 26 Apr 2019, 12:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Friedreich ataxia 229300

Created: 26 Apr 2019, 12:05 p.m.

Panel version: 0.151

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
  • South West GLH
  • London North GLH
  • 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

26 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: FXN_GAA.

26 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to STR: FXN_GAA.

26 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: FXN_GAA.

26 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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

26 Apr 2019, 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 - adult 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