Haem degradation and bilirubin metabolism defects
Gene: HFEEnsemblGeneIds (GRCh38): ENSG00000010704
EnsemblGeneIds (GRCh37): ENSG00000010704
OMIM: 613609, Gene2Phenotype
HFE is in 11 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Postulated to be an aggravating or precipitating factor in some individuals with porphyria, rather than a monogenic cause of porphyria.Created: 25 Jun 2020, 6:06 a.m. | Last Modified: 25 Jun 2020, 6:06 a.m.
Panel Version: 0.1
Phenotypes
{Porphyria cutanea tarda, susceptibility to} 176100; {Porphyria variegata, susceptibility to} 176200
Belinda Chong (Victorian Clinical Genetics Services)
Susceptibility for porphyria
Mild to moderate iron overload with increased serum ferritin levels and hepatic siderosis has been described in up to 90% of PCT, [7–12]and iron deficiency is protective [13]. Although associated susceptibility factors can cause iron overload such as mutations in the hemochromatosis gene (HFE). Porphyria cutanea tarda: Recent update. Singal AK. Mol Genet Metab. 2019 Nov;128(3):271-281. doi: 10.1016/j.ymgme.2019.01.004. Epub 2019 Jan 18. PMID: 30683557.
Associated with Hemochromatosis OMIM.Created: 25 Jun 2020, 12:07 a.m. | Last Modified: 25 Jun 2020, 12:07 a.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemochromatosis
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- {Porphyria cutanea tarda, susceptibility to}, 176100
- {Porphyria variegata, susceptibility to}, 176200
- OMIM
- 613609
- Clinvar variants
- Variants in HFE
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hfe has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hfe has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HFE was added gene: HFE was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: HFE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HFE were set to {Porphyria cutanea tarda, susceptibility to}, 176100; {Porphyria variegata, susceptibility to}, 176200