Stroke
Gene: ENG
Well-established gene-disease association. Hereditary hemorrhagic telangiectasia (HHT) is diagnosed by the presence of 3 or more of the Curacao criteria. ENG is included on the ACMG V3.0 secondary findings list for clinically actionable genes. Pulmonary arterial hypertension can be a feature of the condition, along with HHT.
ClinGen Hemostasis Thrombosis GCEP has classified the gene-disease validity as DEFINITIVE. Classification - 08/28/2019.Created: 1 Apr 2022, 4:12 a.m. | Last Modified: 1 Apr 2022, 4:12 a.m.
Panel Version: 0.12404
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hereditary hemorrhagic telangiectasia MONDO:0019180
Publications
Variants in this GENE are reported as part of current diagnostic practice
Well established gene-disease association.Created: 11 Mar 2021, 7:46 a.m. | Last Modified: 11 Mar 2021, 7:46 a.m.
Panel Version: 0.81
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300
Gene: eng has been classified as Green List (High Evidence).
gene: ENG was added gene: ENG was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 187300