Familial and multiple pulmonary arteriovenous malformations

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

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Eligibility statement prior genetic testing gene
Created: 13 Dec 2016, 10:38 a.m.
Comment on phenotypes: The following HPO terms added by expert reviewer Claire Shovlin: Pulmonary arteriovenous malformation (HP:0006548); Epistaxis (HP:0000421); Nasal mucosa telangiectasia (HP:0000434); Lip telangiectasia (HP:0000214); Tongue telangiectasia (HP:0000227); Palate telangiectasia (HP:0002707) Finger pad telangiectasia (pulp not nail side); Gastrointestinal telangiectasia (HP:0002604); Arteriovenous malformation (HP:0100026); Cerebral arteriovenous malformation (HP:0002408); Pulmonary arteriovenous malformation (HP:0006548); Hepatic arteriovenous malformation (HP:0006574); Spinal arteriovenous malformation (HP:0002390). Additional phenotypes secondary to these diagnostic criteria. Pulmonary arterial hypertension HP: 0002092
Created: 13 Dec 2016, 10:38 a.m.

Claire Shovlin (Imperial College London)

Green List (high evidence)

Pulmonary arteriovenous malformations associated with hereditary haemorrhagic telangiectasia type 2
Created: 13 Nov 2016, 10:54 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pulmonary arteriovenous malformation (HP:0006548); Epistaxis (HP:0000421); Nasal mucosa telangiectasia (HP:0000434); Lip telangiectasia (HP:0000214); Tongue telangiectasia (HP:0000227); Palate telangiectasia (HP:0002707) Finger pad telangiectasia (pulp not nail side); Gastrointestinal telangiectasia (HP:0002604); Arteriovenous malformation (HP:0100026); Cerebral arteriovenous malformation (HP:0002408); Pulmonary arteriovenous malformation (HP:0006548); Hepatic arteriovenous malformation (HP:0006574); Spinal arteriovenous malformation (HP:0002390). Additional phenotypes secondary to these diagnostic criteria. Pulmonary arterial hypertension HP: 0002092

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2 600376
OMIM
601284
Clinvar variants
Variants in ACVRL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

13 Dec 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376

13 Dec 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ACVRL1 were set to 8640225;16155196

13 Dec 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

ACVRL1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Emory Genetics Laboratory,Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

13 Dec 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Dec 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376

13 Dec 2016, Gel status: 6

clearsources

Sarah Leigh (Genomics England Curator)

ACVRL1All sources for gene: ACVRL1 were removed

19 Nov 2015, Gel status: 6

Added New Source

Ellen McDonagh (Genomics England Curator)

ACVRL1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Illumina TruGenome Clinical Sequencing Services

19 Nov 2015, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

ACVRL1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Radboud University Medical Center, Nijmegen ACVRL1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Illumina TruGenome Clinical Sequencing Services ACVRL1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Emory Genetics Laboratory ACVRL1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: UKGTN Model of inheritance for gene ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ACVRL1 was created by ellenmcdonagh

30 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ACVRL1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Eligibility statement prior genetic testing