Hypertrophic cardiomyopathy - teen and adult

Gene: FXN

Red List (low evidence)

FXN (frataxin)
EnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 16 panels

3 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Friedreich ataxia (229300)
Created: 25 Mar 2019, 4:30 p.m.
1 report associated
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Alice Gardham (Genomics England)

Comment on mode of pathogenicity: Most often nucleotide repeat expansion. Tagged 5.12.16 by Alice Gardham
Created: 5 Dec 2016, 11:28 a.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to FXN. Mode of inheritance for gene FXN was changed from to BIALLELIC, autosomal or pseudoautosomal

5 Dec 2016, Gel status: 0

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for FXN was changed to Other - please provide details in the comments

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FXN was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list