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  3. HFE2
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Cholestasis

Gene: HFE2

Red List (low 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)

Red List (low evidence)

Cirrhosis rather than cholestasis. Note HGNC approved name is HJV.
Created: 9 Aug 2020, 2:57 a.m. | Last Modified: 9 Aug 2020, 2:57 a.m.
Panel Version: 0.84

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemochromatosis, type 2A, MIM# 602390

Created: 9 Aug 2020, 2:57 a.m.
Last Modified: 9 Aug 2020, 2:57 a.m.
Panel version: 0.84

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • 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: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hfe2 has been classified as Red List (Low Evidence).

9 Aug 2020, Gel status: 1

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: 1

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

9 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hfe2 has been classified as Red List (Low Evidence).

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.

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