Hereditary ataxia

STR: FXN_GAA

Green List (high evidence)

Chromosome: 9
GRCh37 Position: 71652203-71652220
GRCh38 Position: 69037287-69037304
Repeated Sequence: GAA
Normal Number of Repeats: < or = 44
Pathogenic Number of Repeats: = or > 66

FXN (frataxin)
EnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 18 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

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, 1:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comments from Arianna Tucci: It is possible that incomplete penetrance is associated with borderline alleles and expanded alleles containing fewer than 100 GAA repeats. Individuals with a borderline allele and a full-penetrance allele may develop LOFA/VLOFA.
Created: 31 May 2018, 3:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Friedreich ataxia 229300

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

Details

Name
FXN_GAA
Chromosome
9
GRCh37 Coordinates
71652203-71652220
GRCh38 Coordinates
69037287-69037304
Repeated Sequence
GAA
Normal Number of Repeats: < or =
44
Pathogenic Number of Repeats: = or >
66
Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Friedreich ataxia 229300
Tags
STR
OMIM
606829
Clinvar variants
Variants in FXN
Penetrance
None

History Filter Activity

4 Dec 2018, Gel status: 3

Changed Normal Number of Repeats, Status Update

Arianna Tucci (Genomics England Curator)

Normal Number of Repeats for FXN_GAA was changed from 42 to 44. Rating Changed from Green List (high evidence) to 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: 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

Changed Normal Number of Repeats

Arianna Tucci (Genomics England Curator)

Normal Number of Repeats for FXN_GAA was changed from 33 to 42.

31 May 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

Gene was set to FXN. Panel: Hereditary ataxia

31 May 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: FXN_GAA. Panel: Hereditary ataxia

31 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: FXN_GAA was added to Hereditary ataxia panel. Sources: Expert list

31 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: FXN_GAA was created by Ellen McDonagh