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Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. HGNC approved name is HJV.
Created: 9 Aug 2020, 3:01 a.m. | Last Modified: 9 Aug 2020, 3:01 a.m.
Panel Version: 0.3733

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemochromatosis, type 2A, MIM# 602390

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemochromatosis, type 2A, MIM# 602390
Tags
new gene name
OMIM
608374
Clinvar variants
Variants in HFE2
Penetrance
None
Panels with this gene

History Filter Activity

9 Aug 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: HFE2.

9 Aug 2020, 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).

9 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HFE2 were changed from to Hemochromatosis, type 2A, MIM# 602390

9 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HFE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HFE2 was added gene: HFE2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HFE2 was set to Unknown