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  2. Likely inborn error of metabolism
  3. HFE2
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Likely inborn error of metabolism

Gene: HFE2

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

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for HFE2 is HJV
Created: 9 May 2019, 3:39 p.m.
Created: 9 May 2019, 3:39 p.m.

Panel version: 1.54

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Juvenile (type 2) hemochromatosis is an inborn error of iron metabolism. >3 unrelated cases from multiple populations providing gene:disease association, plus animal model.
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemochromatosis, type 2A, 602390

Publications

Created: 23 Feb 2017, 5:14 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hemochromatosis, type 2A, 602390
  • Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)
Tags
new-gene-name
OMIM
608374
Clinvar variants
Variants in HFE2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2019, Gel status: 4

Added Tag

Louise Daugherty (Genomics England Curator)

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

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HFE2. Source London North GLH was added to HFE2.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: HFE2 was added gene: HFE2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HFE2 were set to 27604308 Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390; Hereditary haemochromatosis Type 2 (Disorder of iron metabolism)