Pulmonary arterial hypertension

Gene: ACVRL1

Green List (high evidence)

ACVRL1 (activin A receptor like type 1)
EnsemblGeneIds (GRCh38): ENSG00000139567
EnsemblGeneIds (GRCh37): ENSG00000139567
OMIM: 601284, Gene2Phenotype
ACVRL1 is in 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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.

BRIDGE consortium (NIHRBR-RD)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Eligibility statement prior genetic testing
  • Literature
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2, 600376
  • Heritable pulmonary arterial hypertension
  • HPAH
OMIM
601284
Clinvar variants
Variants in ACVRL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ACVRL1. Rating Changed from Green List (high evidence) to Green List (high evidence)

16 Apr 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

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

22 Jun 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further in-house curation.

22 Jun 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

ACVRL1 was added to Pulmonary arterial hypertensionpanel. Sources: Expert list

9 Jun 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, 600376;Heritable pulmonary arterial hypertension; HPAH

9 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Jun 2017, Gel status: 2

Upload gene information

Louise Daugherty (Genomics England Curator)

ACVRL1 was added to Pulmonary arterial hypertensionpanel. Sources: UKGTN,Emory Genetics Laboratory

9 Jun 2017, Gel status: 0

Upload gene information

Louise Daugherty (Genomics England Curator)

ACVRL1 was added to Pulmonary arterial hypertensionpanel. Sources: Eligibility statement prior genetic testing

9 Jun 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

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

9 Jun 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

ACVRL1 was added to Pulmonary arterial hypertensionpanel. Sources: Literature

9 Jun 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

ACVRL1 was created by LouiseD