Hypertrophic cardiomyopathy
STR: FXN_GAAGRCh37 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, 1:04 p.m. | Last Modified: 15 Mar 2022, 1:04 p.m.
Panel Version: 2.38
Louise Daugherty (Genomics England Curator)
Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.Created: 5 Dec 2018, 6:50 p.m.
Ellen McDonagh (Genomics England Curator)
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: <
- 44
- Pathogenic Number of Repeats: = or >
- 66
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Removed
- Expert list
- Phenotypes
-
- Friedreich ataxia OMIM:229300
- Friedreich ataxia with retained reflexes OMIM:229300
- Friedreich ataxia 1 MONDO:0100340
- Tags
- OMIM
- 606829
- Clinvar variants
- Variants in FXN
- Penetrance
- None
History Filter Activity
Added New Source
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to STR: FXN_GAA.
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
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to STR: FXN_GAA.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Str: fxn_gaa has been removed from the panel.
Changed Normal Number of Repeats
Louise Daugherty (Genomics England Curator)Normal Number of Repeats for FXN_GAA was changed from 33 to 44.
Added Tag
Ellen McDonagh (Genomics England Curator)STR was added to STR: FXN_GAA. Panel: Hypertrophic Cardiomyopathy
Added New Source
Ellen McDonagh (Genomics England Curator)STR: FXN_GAA was added to Hypertrophic Cardiomyopathy panel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)STR: FXN_GAA was created by Ellen McDonagh