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  3. HEPH
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Metal Metabolism Disorders

Gene: HEPH

Red List (low evidence)
HEPH (hephaestin)
EnsemblGeneIds (GRCh38): ENSG00000089472
EnsemblGeneIds (GRCh37): ENSG00000089472
OMIM: 300167, Gene2Phenotype
HEPH is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mouse models only, cannot find reports of variants in humans associated with disease.
Created: 22 Jan 2021, 8:01 a.m. | Last Modified: 22 Jan 2021, 8:01 a.m.
Panel Version: 0.6

Phenotypes
Iron metabolism defect

Publications

Created: 22 Jan 2021, 8:01 a.m.
Last Modified: 22 Jan 2021, 8:01 a.m.
Panel version: 0.6

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS Genomic Medicine Service
  • Genomics England PanelApp
Phenotypes
  • Iron metabolism defect
OMIM
300167
Clinvar variants
Variants in HEPH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Jan 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HEPH were changed from to Iron metabolism defect

22 Jan 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HEPH were set to

22 Jan 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Jan 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HEPH was added gene: HEPH was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service Mode of inheritance for gene: HEPH was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females