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  3. FXN_GAA
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Ataxia and cerebellar anomalies - narrow panel

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, 1:03 p.m. | Last Modified: 15 Mar 2022, 1:03 p.m.
Panel Version: 2.288
Created: 15 Mar 2022, 1:03 p.m.
Last Modified: 15 Mar 2022, 1:03 p.m.
Panel version: 2.288

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert list
Created: 21 Dec 2018, 4:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Friedreich ataxia 229300

Created: 21 Dec 2018, 4:32 p.m.

Panel version: 0.26

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
  • Friedreich ataxia 1 MONDO:0100340
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 May 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340

11 May 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (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; Friedreich ataxia 1 MONDO:0100340

9 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 Ataxia and cerebellar anomalies - narrow panel. 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