Hereditary Erythrocytosis
Gene: EPOComment on phenotypes: This gene is also associated with ?Diamond-Blackfan anemia-like, OMIM:617911; {Microvascular complications of diabetes 2}, OMIM:612623Created: 23 Mar 2021, 10:06 a.m. | Last Modified: 23 Mar 2021, 10:06 a.m.
Panel Version: 1.25
Comment on mode of inheritance: Biallelic variants have been associated with ?Diamond-Blackfan anemia-like 617911Created: 18 Aug 2020, 2:58 p.m. | Last Modified: 18 Aug 2020, 2:58 p.m.
Panel Version: 1.4
Comment on list classification: GMS, Expert list GreenCreated: 18 Aug 2020, 2:56 p.m. | Last Modified: 18 Aug 2020, 2:56 p.m.
Panel Version: 1.2
Comment on list classification: Expert reviewer has suggested that gene has not been robustly linked with this disease, despite being a good biological candidate. Should be redCreated: 3 May 2017, 9:52 a.m.
Comment on list classification: Expert reviewer has suggested that gene has not been robustly linked with this disease, despite being a good biological candidate. Should be redCreated: 3 May 2017, 9:51 a.m.
Mode of inheritance
Unknown
Phenotypes
Hereditary Erythrocytosis
Publications
Phenotypes for gene: EPO were changed from Erythrocytosis, familial, 5 617907 to Erythrocytosis, familial, 5, OMIM:617907
Mode of inheritance for gene: EPO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EPO were changed from Hereditary Erythrocytosis to Erythrocytosis, familial, 5 617907
Gene: epo has been classified as Green List (High Evidence).
09/05/2017 - Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
EPO was added to Hereditary Erythrocytosispanel. Sources: Literature
EPO was created by oniblock