Familial and multiple pulmonary arteriovenous malformations
Gene: ENGComment on phenotypes: The following HPO terms have been 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); Hepatic arteriovenous malformation (HP:0006574); Spinal arteriovenous malformation (HP:0002390). Additional phenotypes secondary to these diagnostic criteria.Created: 13 Dec 2016, 10:28 a.m.
Comment when marking as ready: Eligibility statement prior genetic testing geneCreated: 13 Dec 2016, 10:27 a.m.
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); Hepatic arteriovenous malformation (HP:0006574); Spinal arteriovenous malformation (HP:0002390). Additional phenotypes secondary to these diagnostic criteria.
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 ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 187300
Publications for ENG were set to 7894484
ENG was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Emory Genetics Laboratory,Eligibility statement prior genetic testing,Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 187300
ENGAll sources for gene: ENG were removed
ENG was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Illumina TruGenome Clinical Sequencing Services
ENG was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Radboud University Medical Center, Nijmegen ENG was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Illumina TruGenome Clinical Sequencing Services ENG was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Emory Genetics Laboratory ENG was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: UKGTN Model of inheritance for gene ENG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ENG was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Eligibility statement prior genetic testing
ENG was created by ellenmcdonagh