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This Panel is marked as Internal

Newborns main panel
Gene: HFE2

HFE2 (hemochromatosis type 2 (juvenile))
EnsemblGeneIds (GRCh38): ENSG00000168509
EnsemblGeneIds (GRCh37): ENSG00000168509
OMIM: 608374, Gene2Phenotype
HFE2 is in 10 panels

1 review

Mafalda Gomes (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for HFE2 is HJV
Created: 25 Oct 2023, 9:01 a.m. | Last Modified: 25 Oct 2023, 9:01 a.m.

Panel Version: 0.250

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.250

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

Hemochromatosis, type 2A

Tags

new-gene-name

OMIM

Clinvar variants

Variants in HFE2

Penetrance

None

Panels with this gene

History Filter Activity

25 Oct 2023, Gel status: 2

Added Tag

Mafalda Gomes (Genomics England Curator)

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

25 Oct 2023, Gel status: 2

Removed Tag, Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name was removed from gene: HFE2. Tag HJV was removed from gene: HFE2.

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to HFE2. Added phenotypes Hemochromatosis, type 2A for gene: HFE2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to HFE2. Added phenotypes Hemochromatosis, type 2A for gene: HFE2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to HFE2. Added phenotypes Hemochromatosis, type 2A for gene: HFE2 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

Added Tag, Added Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name tag was added to gene: HFE2. Tag HJV tag was added to gene: HFE2.

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hemochromatosis, type 2A for gene: HFE2

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: HFE2 was added gene: HFE2 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal