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  3. HFE
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Cholestasis

Gene: HFE

Red List (low evidence)
HFE (hemochromatosis)
EnsemblGeneIds (GRCh38): ENSG00000010704
EnsemblGeneIds (GRCh37): ENSG00000010704
OMIM: 613609, Gene2Phenotype
HFE is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Cirrhosis rather than cholestasis.
Created: 9 Aug 2020, 2:55 a.m. | Last Modified: 9 Aug 2020, 2:55 a.m.
Panel Version: 0.81

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemochromatosis, MIM# 235200

Created: 9 Aug 2020, 2:55 a.m.
Last Modified: 9 Aug 2020, 2:55 a.m.
Panel version: 0.81

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemochromatosis, MIM# 235200
OMIM
613609
Clinvar variants
Variants in HFE
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: hfe 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: HFE were changed from to Hemochromatosis, MIM# 235200

9 Aug 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HFE 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: hfe has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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