Pulmonary arterial hypertension

Gene: ENG

Green List (high evidence)

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.

Green List (high evidence)

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

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