Hereditary Erythrocytosis
Gene: EPAS1Comment on mode of pathogenicity: Most mutations are gain-of-function missense variants in exon 12, but variants in exon 9 have also been described, in association with paraganglioma.Created: 3 May 2017, 9:46 a.m.
Comment on mode of inheritance: PMID: 23859443 and expert reviewer indicate monoallelic inheritance for this gene. However, note that OMIM nor Gene2Phenotype have MOI data for this gene.Created: 26 Apr 2017, 1:43 p.m.
Comment on list classification: With literature review and expert review, upgraded gene to Green (high evidence). At least 3 unrelated cases described - 27651169; 27774468; 22367913Created: 26 Apr 2017, 1:37 p.m.
Most mutations are gain-of-function missense variants in exon 12, but variants in exon 9 have also been described, in association with paraganglioma.Created: 25 Apr 2017, 10:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Erythrocystosis; Pulmonary arterial hypertension; paraganglioma
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Gene sourced from The Genetics Home Reference.Created: 14 Mar 2017, 2:21 p.m.
Mode of inheritance
Unknown
Phenotypes for gene: EPAS1 were changed from Familial Erythrocytosis, 611783; Erythrocystosis; Pulmonary arterial hypertension; paraganglioma to Erythrocytosis, familial, 4, OMIM:611783
09/05/2017 - Panel reviews were assessed, and panel was revised according to reviews and further curation.
Mode of pathogenicity for EPAS1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
This gene has been classified as Green List (High Evidence).
Mode of inheritance for EPAS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for EPAS1 were set to Familial Erythrocytosis, 611783; Erythrocystosis; Pulmonary arterial hypertension; paraganglioma
Publications for EPAS1 were set to 27651169; 27774468; 22367913; 18650473; 18184961; 18378852
This gene has been classified as Green List (High Evidence).
EPAS1 was added to Hereditary Erythrocytosispanel. Source: Illumina TruGenome Clinical Sequencing Services
EPAS1 was added to Hereditary Erythrocytosispanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene EPAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
EPAS1 was added to Hereditary Erythrocytosispanel. Sources: Other
EPAS1 was created by ellenmcdonagh