Hereditary Erythrocytosis
Gene: EPAS1

EPAS1 (endothelial PAS domain protein 1)
EnsemblGeneIds (GRCh38): ENSG00000116016
EnsemblGeneIds (GRCh37): ENSG00000116016
OMIM: 603349, Gene2Phenotype
EPAS1 is in 2 panels

3 reviews

Olivia Niblock (Genomics England Curator)

Comment 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; 22367913
Created: 26 Apr 2017, 1:37 p.m.

Created: 26 Apr 2017, 1:37 p.m.

Panel version: 0.17

Daniel Gale (UCL)

Green List (high evidence)

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

Created: 25 Apr 2017, 10:45 a.m.

Panel version: 0.11

Ellen McDonagh (Genomics England Curator)

Gene sourced from The Genetics Home Reference.
Created: 14 Mar 2017, 2:21 p.m.

Mode of inheritance
Unknown

Created: 14 Mar 2017, 2:21 p.m.

Panel version: 0.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Other

Phenotypes

Erythrocytosis, familial, 4, OMIM:611783

OMIM

603349

Clinvar variants

Variants in EPAS1

Penetrance

Complete

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

Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EPAS1 were changed from Familial Erythrocytosis, 611783; Erythrocystosis; Pulmonary arterial hypertension; paraganglioma to Erythrocytosis, familial, 4, OMIM:611783

9 May 2017, Gel status: 4