Hereditary Erythrocytosis

Gene: HIF1A

Red List (low evidence)

HIF1A (hypoxia inducible factor 1 alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000100644
EnsemblGeneIds (GRCh37): ENSG00000100644
OMIM: 603348, Gene2Phenotype
HIF1A is in 1 panel

1 review

Olivia Niblock (Genomics England Curator)

Mode of inheritance
Unknown

Phenotypes
erythrocytosis

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Literature
Phenotypes
  • Familial erythrocytosis
OMIM
603348
Clinvar variants
Variants in HIF1A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 May 2017, Gel status: 0

panel promoted to version 1

Olivia Niblock (Genomics England Curator)

09/05/2017 - Panel reviews were assessed, and panel was revised according to reviews and further curation.

28 Apr 2017, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

HIF1A was created by oniblock

28 Apr 2017, Gel status: 0

Added New Source

Olivia Niblock (Genomics England Curator)

HIF1A was added to Hereditary Erythrocytosispanel. Sources: Literature