Hereditary Erythrocytosis
Gene: EPO

EPO (erythropoietin)
EnsemblGeneIds (GRCh38): ENSG00000130427
EnsemblGeneIds (GRCh37): ENSG00000130427
OMIM: 133170, Gene2Phenotype
EPO is in 2 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is also associated with ?Diamond-Blackfan anemia-like, OMIM:617911; {Microvascular complications of diabetes 2}, OMIM:612623
Created: 23 Mar 2021, 10:06 a.m. | Last Modified: 23 Mar 2021, 10:06 a.m.

Panel Version: 1.25

Created: 23 Mar 2021, 10:06 a.m.
Last Modified: 23 Mar 2021, 10:06 a.m.
Panel version: 1.25

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: Biallelic variants have been associated with ?Diamond-Blackfan anemia-like 617911
Created: 18 Aug 2020, 2:58 p.m. | Last Modified: 18 Aug 2020, 2:58 p.m.

Panel Version: 1.4

Comment on list classification: GMS, Expert list Green
Created: 18 Aug 2020, 2:56 p.m. | Last Modified: 18 Aug 2020, 2:56 p.m.

Panel Version: 1.2

Created: 18 Aug 2020, 2:56 p.m.
Last Modified: 18 Aug 2020, 2:56 p.m.
Panel version: 1.2

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Expert reviewer has suggested that gene has not been robustly linked with this disease, despite being a good biological candidate. Should be red
Created: 3 May 2017, 9:52 a.m.

Comment on list classification: Expert reviewer has suggested that gene has not been robustly linked with this disease, despite being a good biological candidate. Should be red
Created: 3 May 2017, 9:51 a.m.

Mode of inheritance
Unknown

Phenotypes
Hereditary Erythrocytosis

Publications

27651169

Created: 26 Apr 2017, 2:36 p.m.

Panel version: 0.28

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Literature

Phenotypes

Erythrocytosis, familial, 5, OMIM:617907

OMIM

133170

Clinvar variants

Variants in EPO

Penetrance

Complete

Publications

27651169

Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EPO were changed from Erythrocytosis, familial, 5 617907 to Erythrocytosis, familial, 5, OMIM:617907

18 Aug 2020, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: EPO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

18 Aug 2020, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: EPO were changed from Hereditary Erythrocytosis to Erythrocytosis, familial, 5 617907

18 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: epo has been classified as Green List (High Evidence).

9 May 2017, Gel status: 1