Red cell disorders
Gene: EPOEnsemblGeneIds (GRCh38): ENSG00000130427
EnsemblGeneIds (GRCh37): ENSG00000130427
OMIM: 133170, Gene2Phenotype
EPO is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 5 unrelated families reported, though note one paper has been retracted.
Single family with bi-allelic variants and a DBA phenotype.
Sources: Expert listCreated: 15 Sep 2021, 5 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Erythrocytosis, familial, 5, MIM# 617907; Diamond-Blackfan anaemia-like, MIM# 617911
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Erythrocytosis, familial, 5, MIM# 617907
- Diamond-Blackfan anaemia-like, MIM# 617911
- OMIM
- 133170
- Clinvar variants
- Variants in EPO
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: epo has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: epo has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EPO was added gene: EPO was added to Red cell disorders. Sources: Expert list Mode of inheritance for gene: EPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EPO were set to 27651169; 29514032; 32130275; 20700488; 30507031; 28283061 Phenotypes for gene: EPO were set to Erythrocytosis, familial, 5, MIM# 617907; Diamond-Blackfan anaemia-like, MIM# 617911 Review for gene: EPO was set to GREEN