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  3. EPOR
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Red cell disorders

Gene: EPOR

Green List (high evidence)
EPOR (erythropoietin receptor)
EnsemblGeneIds (GRCh38): ENSG00000187266
EnsemblGeneIds (GRCh37): ENSG00000187266
OMIM: 133171, Gene2Phenotype
EPOR is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Sources: Expert list
Created: 16 Sep 2021, 12:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
[Erythrocytosis, familial, 1], MIM# 133100

Publications

Created: 16 Sep 2021, 12:58 a.m.

Panel version: 0.152

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • [Erythrocytosis, familial, 1], MIM# 133100
OMIM
133171
Clinvar variants
Variants in EPOR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Sep 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EPOR was added gene: EPOR was added to Red cell disorders. Sources: Expert list Mode of inheritance for gene: EPOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EPOR were set to 8506290; 9292543; 30507031; 33061762 Phenotypes for gene: EPOR were set to [Erythrocytosis, familial, 1], MIM# 133100 Review for gene: EPOR was set to GREEN