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Mendeliome

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association. Disease-causing variants resulting in truncation of the cytoplasmic COOH-terminal of the receptor, the C‐terminal EPOR cytoplasmic domain is responsible for negative regulation.
Created: 1 Apr 2022, 8:48 a.m. | Last Modified: 1 Apr 2022, 8:48 a.m.
Panel Version: 0.12449

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
primary familial polycythemia due to EPO receptor mutation MONDO:0007572

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • primary familial polycythemia due to EPO receptor mutation MONDO:0007572
OMIM
133171
Clinvar variants
Variants in EPOR
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

20 May 2022, 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).

1 Apr 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: EPOR were changed from to primary familial polycythemia due to EPO receptor mutation MONDO:0007572

1 Apr 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: EPOR were set to

1 Apr 2022, Gel status: 3

Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

Mode of pathogenicity for gene: EPOR was changed from to Other

1 Apr 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: EPOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EPOR was added gene: EPOR was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EPOR was set to Unknown