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  3. HFE
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Likely inborn error of metabolism

Gene: HFE

Green List (high evidence)
HFE (hemochromatosis)
EnsemblGeneIds (GRCh38): ENSG00000010704
EnsemblGeneIds (GRCh37): ENSG00000010704
OMIM: 613609, Gene2Phenotype
HFE is in 15 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Hereditary hemochromatosis is a disorder 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, 235200

Publications

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

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

History Filter Activity

3 Nov 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: HFE were changed from Hemochromatosis, 235200; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism) to Hemochromatosis, OMIM:235200

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

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

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: HFE was added gene: HFE was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HFE were set to 27604308 Phenotypes for gene: HFE were set to Hemochromatosis, 235200; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism)