Hypertrophic cardiomyopathy_HCM
Gene: FXNEnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 12 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
Associated with Friedreich ataxia which involves HCM in some patients. No evidence for isolated HCM. Red in PanelApp GEL. Curated for syndromes by ClinGen working group.Created: 29 Jul 2020, 4:21 a.m. | Last Modified: 29 Jul 2020, 4:21 a.m.
Panel Version: 0.89
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Friedreich ataxia MIM#229300
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Friedreich ataxia MIM#229300
- OMIM
- 606829
- Clinvar variants
- Variants in FXN
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fxn has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FXN were changed from to Friedreich ataxia MIM#229300
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FXN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fxn has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FXN was added gene: FXN was added to Hypertrophic cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FXN was set to Unknown