ENG

endoglin
OMIM: 131195, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red ENG in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection

Green ENG in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.5
Signed off v.2.2 on 2 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Other
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1 187300

Red ENG in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.13

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease

Green ENG in Hereditary haemorrhagic telangiectasia

Level 3: Vascular lung disorders
Level 2: Respiratory disorders
Version 2.6
Signed off v.2.2 on 2 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1, 187300
  • 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)

Red ENG in GI tract tumours

Level 3: GI tract
Level 2: Tumour syndromes
Version 1.18

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Juvenile Polyposis

Green ENG in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.156

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1, 187300
  • Bleeding disorder

Green ENG in Vascular skin disorders


Version 1.4
Signed off v.1.3 on 15 Oct 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hereditary haemorrhagic telengiectasia

Green ENG in Pulmonary arterial hypertension

Level 3: Pulmonary heart disease
Level 2: Cardiovascular disorders
Version 2.5
Signed off v.2.2 on 2 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
  • Literature
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1, 187300
  • Heritable pulmonary arterial hypertension
  • HPAH
  • Hereditary hemorrhagic telangiectasia
  • HHT

Green ENG in Bleeding and platelet disorders


Version 1.12
Signed off v.1.2 on 3 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 187300 Telangiectasia, hereditary hemorrhagic, type 1

Green ENG in Severe Paediatric Disorders


Version 1.19

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1, 187300