Familial and multiple pulmonary arteriovenous malformations

Gene: ENG

Green List (high evidence)

ENG (endoglin)
EnsemblGeneIds (GRCh38): ENSG00000106991
EnsemblGeneIds (GRCh37): ENSG00000106991
OMIM: 131195, Gene2Phenotype
ENG is in 10 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment 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 gene
Created: 13 Dec 2016, 10:27 a.m.

Claire Shovlin (Imperial College London)

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1 187300
OMIM
131195
Clinvar variants
Variants in ENG
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: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 187300

13 Dec 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ENG were set to 7894484

13 Dec 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

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

13 Dec 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene ENG 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 ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 187300

13 Dec 2016, Gel status: 6

clearsources

Sarah Leigh (Genomics England Curator)

ENGAll sources for gene: ENG were removed

19 Nov 2015, Gel status: 6

Added New Source

Ellen McDonagh (Genomics England Curator)

ENG 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)

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

30 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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

30 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ENG was created by ellenmcdonagh