Cytopenias and congenital anaemias
Gene: EPO

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: New gene added by external reviewer. Gene rated as red as there is currently not enough evidence in the literature to support green rating
Created: 7 Aug 2018, 10:35 a.m.

Comment on list classification: New gene added by external reviewer. Gene rated as red as there is currently not enough evidence in the literature to support gene-disease association.
Created: 7 Aug 2018, 10:35 a.m.

Comment on mode of inheritance: MOI is set to both as Diamond-Blackfan anemia-like (AR), Erythrocytosis, familial 5 (AD)
Created: 7 Aug 2018, 10:32 a.m.

Comment on publications: Diamond-Blackfan anemia-like (AR), 617911. Two sibs, born of consanguineous parents, with Diamond-Blackfan anemia-like, Kim et al. (2017) PMID:28283061 identified a homozygous missense mutation in the EPO gene. Erythrocytosis, familial 5 (AD), 617907. In 10 affected members of a 4-generation Norwegian family with ECYT5, Zmajkovic et al. (2018) PMID: 29514032 identified a heterozygous 1-bp deletion in EPO.
Created: 7 Aug 2018, 10:31 a.m.

Comment on phenotypes: added phenotypes from OMIM
Created: 7 Aug 2018, 10:24 a.m.

Created: 7 Aug 2018, 10:24 a.m.

Panel version: 1.58

Mary Alikian (Imperial College London)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
DBA

Publications

20655265

Created: 1 Aug 2018, 4:04 p.m.

Panel version: 1.57

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

DBA
Diamond-Blackfan anemia-like (AR), 617911
Erythrocytosis, familial 5 (AD), 617907

OMIM

133170

Clinvar variants

Variants in EPO

Penetrance

unknown

Publications

Panels with this gene