1. Panels
  2. Vascular Malformations_Somatic

Vascular Malformations_Somatic (Version 1.14)

Level 2: Cardiovascular disorders

Relevant disorders: Abnormal vascular morphology HP:0025015
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel contains genes that cause vascular malformations as a result of somatic mutations and is suitable for use when affected tissue is being tested.

If a germline disorder is suspected, please use the Vascular Malformations_Germline panel.
Panel Activity

5 reviewers

  • Natasha Brown (Victorian Clinical Genetics Services)

  • Chris Richmond (Genetic Health Queensland)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Naomi Baker (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

25 Entities

25 reviewed, 19 green

List Entity Reviews Mode of inheritance Details
25 Entitiess
Green List (high evidence)
ACVRL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2 (600376)
Tags
Green List (high evidence)
AKT1
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cowden syndrome 6 615109
  • Proteus syndrome, somatic 176920
Tags
  • somatic
Green List (high evidence)
AKT3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (615937)
Tags
Green List (high evidence)
BRAF
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Sporadic vascular malformations
Tags
  • somatic
Green List (high evidence)
ENG
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2 (600376)
Tags
Green List (high evidence)
GJA4
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cavernous hemangioma
Tags
  • somatic
Green List (high evidence)
GLMN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Glomuvenous malformations (138000)
Tags
Green List (high evidence)
GNA11
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Somatic hemangioma
  • Phacomatosis pigmentovascularis, somatic
Tags
  • somatic
Green List (high evidence)
GNA14
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Tufted angioma
  • vascular tumours
  • Anastomosing hemangioma
Tags
  • somatic
Green List (high evidence)
GNAQ
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Sturge-Weber syndrome, somatic, mosaic 185300
  • Capillary malformations, congenital, 1, somatic, mosaic 163000
  • Phacomatosis pigmentovascularis
Tags
  • somatic
Green List (high evidence)
HRAS
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Vascular malformation/overgrowth syndromes
  • Extracranial arteriovenous malformations
Tags
  • somatic
Green List (high evidence)
KRAS
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Arteriovenous malformation of the brain, somatic 108010
  • Vascular malformation
Tags
  • somatic
Green List (high evidence)
MAP2K1
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Arteriovenous malformation
  • Intramuscular fast-flow vascular anomaly
Tags
  • somatic
Green List (high evidence)
MAP3K3
3 reviews
3 green 		Other
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Verrucous venous malformation
  • Cerebral cavernous malformations 5, MIM# 621032
Tags
  • somatic
Green List (high evidence)
NRAS
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Kaposiform lymphangiomatosis
  • Sporadic vascular malformation
Tags
  • somatic
Green List (high evidence)
PIK3CA
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Megalencephaly-capillary malformation (MCAP) syndrome
  • Cowden syndrome 5 615108
Tags
Green List (high evidence)
PIK3R1
1 review
1 green 		Other
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • capillary malformation MONDO:0016231, PIK3R1-related
Tags
Green List (high evidence)
RASA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Capillary malformation-arteriovenous malformation 1 (608354)
Tags
Green List (high evidence)
TEK
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Venous malformations, multiple cutaneous and mucosal (600195)
  • Blue rubber bleb naevus syndrome
  • Sporadic multifocal vascular malformations
Tags
Amber List (moderate evidence)
EPHB4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Capillary malformation-arteriovenous malformation
Tags
Amber List (moderate evidence)
MET
1 review
 Other
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • lymphovenous malformation
  • overgrowth
Tags
Amber List (moderate evidence)
MTOR
1 review
 Other
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Smith-Kingsmore syndrome 616638
  • Focal cortical dysplasia, type II, somatic 607341
Tags
Amber List (moderate evidence)
SOS1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Noonan syndrome 4 610733
Tags
Red List (low evidence)
GNB2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Sturge-Weber syndrome, somatic, mosaic
Tags
  • somatic
Red List (low evidence)
KDR
1 review
1 red 		Other
Sources
  • Expert list
Phenotypes
  • Hemangioma, capillary infantile, somatic, MIM# 602089
Tags

Major version comments

  • 2020-11-18 01:17 Bryony Thompson (Royal Melbourne Hospital) promoted panel to 1.0
    Fully reviewed and promoted to V1.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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