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  3. FXN
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Hereditary Neuropathy - complex

Gene: FXN

Green List (high evidence)
FXN (frataxin)
EnsemblGeneIds (GRCh38): ENSG00000165060
EnsemblGeneIds (GRCh37): ENSG00000165060
OMIM: 606829, Gene2Phenotype
FXN is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Peripheral sensory neuropathy is part of the phenotype. Note only ~2% of cases are due to SNVs, majority due to STRs.
Sources: NHS GMS
Created: 1 Apr 2020, 6:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Friedreich ataxia, MIM# 229300

Mode of pathogenicity
Other

Created: 1 Apr 2020, 6:56 a.m.

Panel version: 0.34

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Friedreich ataxia, MIM# 229300
Tags
STR
OMIM
606829
Clinvar variants
Variants in FXN
Penetrance
None
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fxn has been classified as Green List (High Evidence).

1 Apr 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag STR tag was added to gene: FXN.

1 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fxn has been classified as Green List (High Evidence).

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FXN was added gene: FXN was added to Hereditary Neuropathy - complex. Sources: NHS GMS Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FXN were set to Friedreich ataxia, MIM# 229300 Mode of pathogenicity for gene: FXN was set to Other Review for gene: FXN was set to GREEN