PanelApp (stage)
  1. Genes and Genomic Entities
  2. ENG

ENG

endoglin
OMIM: 131195, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green ENG in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

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

Green ENG in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300
  • Pulmonary arterial hypertension

Green ENG in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • hereditary hemorrhagic telangiectasia MONDO:0019180

Green ENG in Additional findings_Adult


Level 2: Screening
Version 0.166

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

Green ENG in Hereditary Haemorrhagic Telangiectasia


Level 2: Vascular disorders
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1, 187300
  • Gastrointestinal telangiectasia (HP:0002604)
  • Palate telangiectasia (HP:0002707)
  • Lip telangiectasia (HP:0000214)
  • Pulmonary arteriovenous malformation (HP:0006548)
  • Nasal mucosa telangiectasia (HP:0000434)
  • Tongue telangiectasia (HP:0000227)
  • Epistaxis (HP:0000421)
  • Cerebral arteriovenous malformation (HP:0002408)
  • Hepatic arteriovenous malformation (HP:0006574
  • Spinal arteriovenous malformation (HP:0002390)
  • )
  • Finger pad telangiectasia (pulp not nail side)
  • Arteriovenous malformation (HP:0100026)

Green ENG in Vascular Malformations_Germline


Level 2: Cardiovascular disorders
Version 1.11

Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review 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)

    Red ENG in NCGC


    Version 0.2

    		review Other
    Sources
    • NCGC
    Phenotypes
    • NA

    Green ENG in Pulmonary Arterial Hypertension


    Level 2: Cardiovascular disorders
    Version 1.39

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300
    • Pulmonary arterial hypertension

    Green ENG in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Telangiectasia, hereditary hemorrhagic, type 1 187300

    Green ENG in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.39

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Telangiectasia, hereditary hemorrhagic, type 1 187300

    Green ENG in Vascular Malformations_Somatic


    Level 2: Cardiovascular disorders
    Version 1.13

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Telangiectasia, hereditary hemorrhagic, type 2 (600376)

    Green ENG in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Telangiectasia, hereditary hemorrhagic, type 1

    Green ENG in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300
    Tags
    • treatable
    • vascular

    Green ENG in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

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