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  2. Cardiomyopathy_Paediatric
  3. HFE
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Cardiomyopathy_Paediatric

Gene: HFE

Amber List (moderate evidence)
HFE (hemochromatosis)
EnsemblGeneIds (GRCh38): ENSG00000010704
EnsemblGeneIds (GRCh37): ENSG00000010704
OMIM: 613609, Gene2Phenotype
HFE is in 11 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • MetBioNet
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hemochromatosis, 235200
  • Hemochromatosis
  • Hereditary haemochromatosis Type 1 (Disorder of iron metabolism)
  • DCM
  • Haemochromatosis
  • Iron overload, liver disease, diabetes, hypogonadism
  • HCM
  • Hypertrophic-hypocontractile cardiomyopathy
OMIM
613609
Clinvar variants
Variants in HFE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HFE was added gene: HFE was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HFE were set to 27604308 Phenotypes for gene: HFE were set to Hemochromatosis, 235200; Hemochromatosis; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism); DCM; Haemochromatosis; Iron overload, liver disease, diabetes, hypogonadism; HCM; Hypertrophic-hypocontractile cardiomyopathy