Inherited phaeochromocytoma and paraganglioma excluding NF1Gene: EPAS1
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
Erythrocytosis, familial, 4, OMIM:611783
Tag Q2_21_rating tag was added to gene: EPAS1. Tag Q2_21_NHS_review tag was added to gene: EPAS1.
Gene: epas1 has been classified as Amber List (Moderate Evidence).
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