Pulmonary arterial hypertension

Gene: ACVRL1

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: ACVRL1; 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?): none given

Created: 6 Dec 2018, 2:01 p.m.

Comment on list classification: Promoted gene status from Amber to Green evidence in the literature and expert list.

Created: 9 Jun 2017, 2:33 p.m.

Previous gene symbol ALK1. Primary pulmonary hypertension is found in association with hereditary hemorrhagic telangiectasia type 2 caused by mutation in ACVRL1 (PMID:22632830). More than 16 independent families reported with Hereditary hemorrhagic telangiectasia. PMID: 20301658 notes that most heritable PAH (75%) is caused by a pathogenic variant in BMPR2; pathogenic variants in other genes (i.e., ACVRL1, KCNK3, CAV1, SMAD9, BMPR1B,) are considerably less common (1-3%).

Created: 9 Jun 2017, 2:30 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

Publications

• 18159113
• 10903931
• 20056902
• 15146475
• 11115378
• 11015450
• 15687131
• 15965979
• 16429403
• 18159113
• 18503968
• 18356561
• 20056902
• 21737554
• 16717148
• 18496036
• 19785764
• 21801371
• 22632830
• 23298310