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Prepair 1000+

Gene: HFE2

Green List (high evidence)
HFE2 (hemochromatosis type 2 (juvenile))
EnsemblGeneIds (GRCh38): ENSG00000168509
EnsemblGeneIds (GRCh37): ENSG00000168509
OMIM: 608374, Gene2Phenotype
HFE2 is in 9 panels

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

HGNC approved name: HJV
Well established gene disease association. Severe iron loading and organ failure with early onset.
Created: 4 Dec 2024, 4:45 a.m. | Last Modified: 4 Dec 2024, 4:45 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemochromatosis, type 2A, 602390 (3)

Created: 4 Dec 2024, 4:45 a.m.
Last Modified: 4 Dec 2024, 4:45 a.m.
Panel version: 1.633

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Haemochromatosis, type 2A, 602390 (3)
OMIM
608374
Clinvar variants
Variants in HFE2
Penetrance
None
Panels with this gene

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hfe2 has been classified as Green List (High Evidence).

12 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HFE2 were changed from Hemochromatosis, type 2A, 602390 (3) to Haemochromatosis, type 2A, 602390 (3)

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Hemochromatosis, type 2A, 602390 (3) for gene: HFE2

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HFE2 was added gene: HFE2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390 (3)