Red cell disorders
Gene: EPAS1EnsemblGeneIds (GRCh38): ENSG00000116016
EnsemblGeneIds (GRCh37): ENSG00000116016
OMIM: 603349, Gene2Phenotype
EPAS1 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Most mutations are gain-of-function missense variants in exon 12, but variants in exon 9 have also been described, in association with paraganglioma.
Sources: Expert listCreated: 15 Sep 2021, 4:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Erythrocytosis, familial, 4, MIM# 611783
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Erythrocytosis, familial, 4, MIM# 611783
- OMIM
- 603349
- Clinvar variants
- Variants in EPAS1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: epas1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: epas1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EPAS1 was added gene: EPAS1 was added to Red cell disorders. Sources: Expert list Mode of inheritance for gene: EPAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EPAS1 were set to 18184961; 18378852; 22367913; 18650473 Phenotypes for gene: EPAS1 were set to Erythrocytosis, familial, 4, MIM# 611783 Mode of pathogenicity for gene: EPAS1 was set to Other Review for gene: EPAS1 was set to GREEN