Pulmonary arterial hypertension
Gene: ENG
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: ENG; Suggested initial gene rating: Green; Evidence for inclusion: HHT gene; some cases described w/ PAH; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): Multiple promoter/UTR mutations, needs to be covered.Created: 6 Dec 2018, 2:01 p.m.
Primary pulmonary hypertension is found in association with hereditary hemorrhagic telangiectasia type 1 caused by a mutation in the ENG gene, and there are more than three independent cases. Pulmonary hypertension is another pulmonary vascular manifestation of HHT and although less common than pulmonary AVMs, it can either result from systemic arteriovenous shunting in the liver increasing cardiac output or be clinically and histologically indistinguishable from idiopathic pulmonary arterial hypertension.Created: 9 Jun 2017, 2:07 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Idiopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Hereditary hemorrhagic telangiectasia; HHT
Publications
Source NHS GMS was added to ENG. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for ENG were set to 22632830; 7894484; 15024723; 16542389; 9366572; 9245986; 15951283; 24355637; 16752392; 17641482; 26387786; 26699722
Panel reviews were assessed, and panel was revised according to reviews and further in-house curation.
ENG was added to Pulmonary arterial hypertensionpanel. Sources: Expert list
Publications for ENG were set to 22632830; 7894484; 15024723; 16542389; 9366572; 9245986; 15951283; 24355637; 16752392; 17641482; 26387786
Phenotypes for ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, 187300; Heritable pulmonary arterial hypertension; HPAH; Hereditary hemorrhagic telangiectasia; HHT
Phenotypes for ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, 187300;Heritable pulmonary arterial hypertension; HPAH; Hereditary hemorrhagic telangiectasia; HHT
ENG was added to Pulmonary arterial hypertensionpanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
ENG was added to Pulmonary arterial hypertensionpanel. Sources: Eligibility statement prior genetic testing
ENG was added to Pulmonary arterial hypertensionpanel. Sources: Literature
ENG was created by LouiseD