1. Panels
  2. Familial and multiple pulmonary arteriovenous malformations
  3. ENG
STRs in panel
Prev Next
Regions in panel
Prev Next

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 9 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.
Created: 13 Dec 2016, 10:26 a.m.

Panel version: 0.16

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

Created: 13 Nov 2016, 10:59 p.m.

Panel version: 0.12

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