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  3. ENG
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Vascular Malformations_Germline

Gene: ENG

Green List (high evidence)
ENG (endoglin)
EnsemblGeneIds (GRCh38): ENSG00000106991
EnsemblGeneIds (GRCh37): ENSG00000106991
OMIM: 131195, Gene2Phenotype
ENG is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 16 Jan 2021, 7:16 a.m. | Last Modified: 16 Jan 2021, 7:16 a.m.
Panel Version: 0.118

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300

Publications

Created: 16 Jan 2021, 7:16 a.m.
Last Modified: 16 Jan 2021, 7:16 a.m.
Panel version: 0.118

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Epistaxis (HP:0000421)
  • Spinal arteriovenous malformation (HP:0002390)
  • Tongue telangiectasia (HP:0000227)
  • Telangiectasia, hereditary hemorrhagic, type 1, 187300
  • Cerebral arteriovenous malformation (HP:0002408)
  • Palate telangiectasia (HP:0002707)
  • Hepatic arteriovenous malformation (HP:0006574
  • Lip telangiectasia (HP:0000214)
  • Arteriovenous malformation (HP:0100026)
  • Nasal mucosa telangiectasia (HP:0000434)
  • Pulmonary arteriovenous malformation (HP:0006548)
  • )
  • Finger pad telangiectasia (pulp not nail side)
  • Gastrointestinal telangiectasia (HP:0002604)
OMIM
131195
Clinvar variants
Variants in ENG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eng has been classified as Green List (High Evidence).

16 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ENG were set to

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ENG was added gene: ENG was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ENG were set to Epistaxis (HP:0000421); Spinal arteriovenous malformation (HP:0002390); Tongue telangiectasia (HP:0000227); Telangiectasia, hereditary hemorrhagic, type 1, 187300; Cerebral arteriovenous malformation (HP:0002408); Palate telangiectasia (HP:0002707); Hepatic arteriovenous malformation (HP:0006574; Lip telangiectasia (HP:0000214); Arteriovenous malformation (HP:0100026); Nasal mucosa telangiectasia (HP:0000434); Pulmonary arteriovenous malformation (HP:0006548); ); Finger pad telangiectasia (pulp not nail side); Gastrointestinal telangiectasia (HP:0002604)