Pulmonary arterial hypertension
Gene: ACVRL1
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 givenCreated: 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.
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
Source NHS GMS was added to ACVRL1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for ACVRL1 were set to 14684682; 1270060; 20301658; 24951762; 18159113; 10903931; 20056902; 15146475; 11115378; 11015450; 15687131; 15965979; 16429403; 18159113; 18503968; 18356561; 21737554; 16717148; 18496036; 19785764; 21801371; 22632830; 23298310; 26387786; 26699722
Panel reviews were assessed, and panel was revised according to reviews and further in-house curation.
ACVRL1 was added to Pulmonary arterial hypertensionpanel. Sources: Expert list
Phenotypes for ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, 600376;Heritable pulmonary arterial hypertension; HPAH
This gene has been classified as Green List (High Evidence).
ACVRL1 was added to Pulmonary arterial hypertensionpanel. Sources: UKGTN,Emory Genetics Laboratory
ACVRL1 was added to Pulmonary arterial hypertensionpanel. Sources: Eligibility statement prior genetic testing
Publications for ACVRL1 were set to 14684682; 1270060; 20301658; 24951762; 18159113; 10903931; 20056902; 15146475; 11115378; 11015450; 15687131; 15965979; 16429403; 18159113; 18503968; 18356561; 21737554; 16717148; 18496036; 19785764; 21801371; 22632830; 23298310 ; 26387786
ACVRL1 was added to Pulmonary arterial hypertensionpanel. Sources: Literature
ACVRL1 was created by LouiseD