Hereditary Erythrocytosis
Gene: EPORComment on mode of inheritance: Expert reviewer and OMIM indicate this gene has monoallelic inheritance.Created: 26 Apr 2017, 2:02 p.m.
Comment on list classification: After literature search and Expert review highlighting that the gene was a current diagnostic have upgraded this gene to green (high evidence). PMID: 27774468; 23859443; 18492694Created: 26 Apr 2017, 2 p.m.
Most pathogenic mutations described are truncating.Created: 25 Apr 2017, 11:13 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polcythaemia; erythrocytosis
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Gene sourced from The Genetics Home Reference.Created: 14 Mar 2017, 2:19 p.m.
Mode of inheritance
Unknown
Phenotypes for gene: EPOR were changed from Polcythaemia; erythrocytosis; Familial Erythrocytosis to [Erythrocytosis, familial, 1], OMIM:133100
09/05/2017 - Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for EPOR were set to Polcythaemia; erythrocytosis; Familial Erythrocytosis
Mode of inheritance for EPOR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for EPOR were set to 27774468; 23859443; 18492694; 8506290; 11929803
This gene has been classified as Green List (High Evidence).
EPOR was added to Hereditary Erythrocytosispanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene EPOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
EPOR was created by ellenmcdonagh
EPOR was added to Hereditary Erythrocytosispanel. Sources: Other