Inherited phaeochromocytoma and paraganglioma excluding NF1

Gene: EPAS1

Amber List (moderate evidence)

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

1 review

Ivone Leong (Genomics England Curator)

I don't know

This gene was suggested to be added and given a Green rating by Ruth Casey (Cambridge University Hospital). No other evidence was provided.

This gene is associated with a phenotype in OMIM. It has been reported as somatic gain of function variants in patients who present with PPGL and sporadic tumours (PMID: 22931260, 23418310).

PMID: 33300499 looked at EPAS1 germline variants in patients who has PPGL. Half of them have germline variants in EPAS1 and a known PPGL gene, other half has just EPAS1 variants. There are no details about whether these people had a family history of PPGL.
Sources: Expert list
Created: 16 Feb 2021, 11:15 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Erythrocytosis, familial, 4, OMIM:611783

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Erythrocytosis, familial, 4, OMIM:611783
Tags
Q2_21_rating Q2_21_phenotype Q2_21_NHS_review
OMIM
603349
Clinvar variants
Variants in EPAS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 2

Added Tag, Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: EPAS1. Tag Q2_21_NHS_review tag was added to gene: EPAS1.

16 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: epas1 has been classified as Amber List (Moderate Evidence).

16 Feb 2021, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: EPAS1 was added gene: EPAS1 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert list Q2_21_phenotype tags were added to gene: EPAS1. Mode of inheritance for gene: EPAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EPAS1 were set to 22931260; 23418310; 33300499 Phenotypes for gene: EPAS1 were set to Erythrocytosis, familial, 4, OMIM:611783 Review for gene: EPAS1 was set to AMBER