PanelApp
  1. Panels
  2. Hereditary Haemorrhagic Telangiectasia
Description
This panel was developed for use in cases with a clinical diagnosis of hereditary haemorrhagic telangiectasia. It is maintained by Royal Melbourne Hospital. It is a consensus panel used by VCGS.
Panel Activity

5 reviewers

  • Arina Puzriakova (Genomics England)

  • Naomi Baker (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Lucy Spencer (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services)

7 Entities

6 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
7 Entitiess
Green Green List (high evidence)
ACVRL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • telangiectasia
  • pulmonary arterial hypertension
  • epistaxis
  • pulmonary arteriovenous malformation
  • cerebral pulmonary arteriovenous malformation
  • hepatic arteriovenous malformation
  • Telangiectasia, hereditary hemorrhagic, type 2 600376
Tags
Green Green List (high evidence)
ENG
1 review
1 green 		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)
Tags
Green Green List (high evidence)
EPHB4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Capillary malformation-arteriovenous malformation-2, MIM# 618196
Tags
Green Green List (high evidence)
GDF2
3 reviews
1 green 1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 5 615506
  • pulmonary arteriovenous malformations
Tags
Green Green List (high evidence)
RASA1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Capillary malformation-arteriovenous malformation 608354
Tags
Green Green List (high evidence)
SMAD4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050
Tags
Amber Amber List (moderate evidence)
DROSHA
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
  • hereditary hemorrhagic telangiectasia MONDO:0019180
  • idiopathic spontaneous coronary artery dissection MONDO:0007385
Tags
  • non-coding gene

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