Hereditary Erythrocytosis
Gene: EPOR

EPOR (erythropoietin receptor)
EnsemblGeneIds (GRCh38): ENSG00000187266
EnsemblGeneIds (GRCh37): ENSG00000187266
OMIM: 133171, Gene2Phenotype
EPOR is in 1 panel

3 reviews

Olivia Niblock (Genomics England Curator)

Comment on mode of inheritance: Expert reviewer and OMIM indicate this gene has monoallelic inheritance.
Created: 26 Apr 2017, 2:02 p.m.

Comment on list classification: After literature search and Expert review highlighting that the gene was a current diagnostic have upgraded this gene to green (high evidence). PMID: 27774468; 23859443; 18492694
Created: 26 Apr 2017, 2 p.m.

Created: 26 Apr 2017, 2 p.m.

Panel version: 0.25

Daniel Gale (UCL)

Green List (high evidence)

Most pathogenic mutations described are truncating.
Created: 25 Apr 2017, 11:13 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polcythaemia; erythrocytosis

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Apr 2017, 11:13 a.m.

Panel version: 0.11

Ellen McDonagh (Genomics England Curator)

Gene sourced from The Genetics Home Reference.
Created: 14 Mar 2017, 2:19 p.m.

Mode of inheritance
Unknown

Created: 14 Mar 2017, 2:19 p.m.

Panel version: 0.0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Other

Phenotypes

[Erythrocytosis, familial, 1], OMIM:133100

OMIM

133171

Clinvar variants

Variants in EPOR

Penetrance

Complete

Publications

Panels with this gene

Hereditary Erythrocytosis

History Filter Activity

23 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EPOR were changed from Polcythaemia; erythrocytosis; Familial Erythrocytosis to [Erythrocytosis, familial, 1], OMIM:133100

9 May 2017, Gel status: 4