Familial and multiple pulmonary arteriovenous malformations
Gene: ACVRL1Comment when marking as ready: Eligibility statement prior genetic testing geneCreated: 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: 0002092Created: 13 Dec 2016, 10:38 a.m.
Pulmonary arteriovenous malformations associated with hereditary haemorrhagic telangiectasia type 2Created: 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
This gene has been classified as Green List (High Evidence).
Phenotypes for ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376
Publications for ACVRL1 were set to 8640225;16155196
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
Model of inheritance for gene ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376
ACVRL1All sources for gene: ACVRL1 were removed
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: 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
ACVRL1 was created by ellenmcdonagh
ACVRL1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Eligibility statement prior genetic testing