1. Panels
  2. Monogenic Diabetes
  3. HFE
STRs in panel
Prev Next
Regions in panel
Prev Next

Monogenic Diabetes

Gene: HFE

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

1 review

Hali Van Niel (University of Melbourne)

Green List (high evidence)

Well established gene disease association for Haemochromatosis type 1, largely from homozygous C282Y HFE. If left untreated, diabetes mellitus is common early manifestation
Created: 2 May 2024, 2:24 a.m. | Last Modified: 2 May 2024, 2:24 a.m.
Panel Version: 0.58

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hemochromatosis type 1 MONDO:0021001

Publications

Created: 2 May 2024, 2:24 a.m.
Last Modified: 2 May 2024, 2:24 a.m.
Panel version: 0.58

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • haemochromatosis type 1 MONDO:0021001
OMIM
613609
Clinvar variants
Variants in HFE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HFE were changed from {Porphyria variegata, susceptibility to}, 176200; Hemochromatosis, 235200; {Microvascular complications of diabetes 7}, 612635; {Porphyria cutanea tarda, susceptibility to}, 176100; {Alzheimer disease, susceptibility to}, 104300 to haemochromatosis type 1 MONDO:0021001

2 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HFE were set to

17 Jan 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HFE was added gene: HFE was added to Monogenic diabetes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HFE were set to {Porphyria variegata, susceptibility to}, 176200; Hemochromatosis, 235200; {Microvascular complications of diabetes 7}, 612635; {Porphyria cutanea tarda, susceptibility to}, 176100; {Alzheimer disease, susceptibility to}, 104300